Total 90 pathogenic variants reported for Intestinal hypomagnesemia 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_017662.5(TRPM6):c.1769C>G (p.Ser590Ter) SNV
Germline
Chr9:74802138 Pathogenic Intestinal hypomagnesemia 1 No Assertion Criteria Provided
CA116366 rs_121912622

1 SubmittersRCV000003758

NM_017662.5(TRPM6):c.2009+1G>A SNV
Germline
Chr9:74801897 Pathogenic Intestinal hypomagnesemia 1 No Assertion Criteria Provided
CA373687300 rs_1587522206

1 SubmittersRCV000003763

NM_017662.5(TRPM6):c.1420C>T (p.Arg474Ter) SNV
Germline
Chr9:74812322 Pathogenic Intestinal hypomagnesemia 1 No Assertion Criteria Provided
CA116368 rs_121912623

1 SubmittersRCV000003764

NM_017662.5(TRPM6):c.166C>T (p.Arg56Ter) SNV
Germline
Chr9:74842330 Pathogenic/Likely pathogenic Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA116372 rs_121912624

3 SubmittersRCV000003765RCV002512721

NM_017662.5(TRPM6):c.1010+5G>C SNV
Germline
Chr9:74821664 Pathogenic Intestinal hypomagnesemia 1 No Assertion Criteria Provided
CA913185089 rs_1587543641

1 SubmittersRCV000003766

NM_017662.5(TRPM6):c.422C>T (p.Ser141Leu) SNV
Germline
Chr9:74840146 Pathogenic Intestinal hypomagnesemia 1 No Assertion Criteria Provided
CA116374 rs_121912625

1 SubmittersRCV000003768

NM_017662.5(TRPM6):c.2667+1G>A SNV
Germline
Chr9:74788613 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
CA351641 rs_869025214

2 SubmittersRCV000207483

NM_017662.5(TRPM6):c.5171C>T (p.Thr1724Ile) SNV
Germline
Chr9:74742590 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
TRPM6-related disorder
Criteria Provided
Conflicting Classifications
CA5083874 rs_56290308

4 SubmittersRCV000382190RCV002058807RCV003957874

NM_017662.5(TRPM6):c.1647A>G (p.Arg549=) SNV
Germline
Chr9:74803878 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5084763 rs_148657084

2 SubmittersRCV000352878RCV002523804

NM_017662.5(TRPM6):c.2445T>C (p.His815=) SNV
Germline
Chr9:74792717 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
TRPM6-related disorder
Criteria Provided
Conflicting Classifications
CA5084557 rs_200248159

3 SubmittersRCV000361902RCV003736749RCV003957875

NM_017662.5(TRPM6):c.2319G>C (p.Gln773His) SNV
Germline
Chr9:74796813 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
TRPM6-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA5084600 rs_143164660

5 SubmittersRCV000272758RCV000879630RCV003932523RCV006452619

NM_017662.5(TRPM6):c.113+12A>C SNV
Germline
Chr9:74858657 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5085253 rs_201888532

2 SubmittersRCV000268832RCV002058808

NM_017662.5(TRPM6):c.263C>T (p.Thr88Met) SNV
Germline
Chr9:74842233 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5085182 rs_191344898

3 SubmittersRCV000363307RCV002524605RCV002524604

NM_017662.5(TRPM6):c.2495A>G (p.Tyr832Cys) SNV
Germline
Chr9:74792667 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
CA16609847 rs_1060499646

1 SubmittersRCV000463560

NM_017662.5(TRPM6):c.3357C>A (p.Cys1119Ter) SNV
Germline
Chr9:74775929 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
CA373668269 rs_1114167360

1 SubmittersRCV000491206

NM_017662.5(TRPM6):c.499G>T (p.Ala167Ser) SNV
Germline
Chr9:74840069 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
CA5085133 rs_141014694

3 SubmittersRCV000658047RCV005392258

NM_017662.5(TRPM6):c.3726G>A (p.Lys1242=) SNV
Germline
Chr9:74762945 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
CA5084221 rs_200724937

2 SubmittersRCV000900902RCV001166896

NM_017662.5(TRPM6):c.2767G>T (p.Ala923Ser) SNV
Germline
Chr9:74786026 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5084453 rs_776743221

3 SubmittersRCV000900449RCV001169376RCV002537538

NM_017662.5(TRPM6):c.5016T>C (p.Ser1672=) SNV
Germline
Chr9:74750705 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
CA5083941 rs_752425360

2 SubmittersRCV000918698RCV001169307

NM_017662.5(TRPM6):c.3450G>A (p.Glu1150=) SNV
Germline
Chr9:74771789 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
CA5084274 rs_138880537

2 SubmittersRCV000917425RCV001168612

NM_017662.5(TRPM6):c.1731G>A (p.Lys577=) SNV
Germline
Chr9:74803794 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
CA5084750 rs_372624602

2 SubmittersRCV000912960RCV005047148

NM_017662.5(TRPM6):c.5488-4G>A SNV
Germline
Chr9:74739453 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
not specified
Criteria Provided
Conflicting Classifications
CA5083779 rs_371990882

3 SubmittersRCV000914169RCV001168551RCV006453474

NM_017662.5(TRPM6):c.5223C>T (p.Tyr1741=) SNV
Germline
Chr9:74739987 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA465613989 rs_1252685523

2 SubmittersRCV001168554RCV006465525

NM_017662.5(TRPM6):c.3863G>A (p.Gly1288Glu) SNV
Germline
Chr9:74762808 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5084200 rs_147635290

3 SubmittersRCV001166379RCV002068018RCV004032886

NM_017662.5(TRPM6):c.3681T>C (p.Ala1227=) SNV
Germline
Chr9:74762990 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
TRPM6-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5084228 rs_570955795

3 SubmittersRCV001166897RCV003973122RCV005093700

NM_017662.5(TRPM6):c.3261C>T (p.Asn1087=) SNV
Germline
Chr9:74776025 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5084321 rs_149651828

2 SubmittersRCV001168616RCV002557453

NM_017662.5(TRPM6):c.2920A>G (p.Thr974Ala) SNV
Germline
Chr9:74782853 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5084415 rs_148603803

4 SubmittersRCV001168617RCV002068033

NM_017662.5(TRPM6):c.2776G>A (p.Val926Ile) SNV
Germline
Chr9:74786017 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
TRPM6-related disorder
Criteria Provided
Conflicting Classifications
CA5084449 rs_140835112

3 SubmittersRCV001169375RCV002067837RCV003908423

NM_017662.5(TRPM6):c.821C>T (p.Ser274Phe) SNV
Germline
Chr9:74827798 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5085047 rs_553014740

3 SubmittersRCV001169451RCV001751298

NM_017662.5(TRPM6):c.417G>T (p.Val139=) SNV
Germline
Chr9:74840151 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA465550100 rs_1472189003

2 SubmittersRCV001169455RCV005093714

NM_017662.5(TRPM6):c.198T>C (p.Tyr66=) SNV
Germline
Chr9:74842298 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5085194 rs_183879985

2 SubmittersRCV001166506RCV002558629

NM_017662.5(TRPM6):c.4998+9A>T SNV
Germline
Chr9:74752268 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5083967 rs_141809291

2 SubmittersRCV001169308RCV002068037

NM_017662.5(TRPM6):c.4673-9T>G SNV
Germline
Chr9:74761817 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5084051 rs_763977756

2 SubmittersRCV001169310RCV002558680

NM_017662.5(TRPM6):c.3403+13A>G SNV
Germline
Chr9:74775870 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5084293 rs_750071268

2 SubmittersRCV001168613RCV002558670

NM_017662.5(TRPM6):c.34-15A>T SNV
Germline
Chr9:74858763 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5085265 rs_375462836

2 SubmittersRCV001166508RCV002557431

NM_017672.6(TRPM7):c.3137G>A (p.Gly1046Asp) SNV
Germline
Chr15:50599148 Pathogenic Intestinal hypomagnesemia 1 No Assertion Criteria Provided
CA392405094 rs_2059709974

1 SubmittersRCV001251044

NM_017672.6(TRPM7):c.3+1G>C SNV
Unknown
Chr15:50686530 Pathogenic Intestinal hypomagnesemia 1 No Assertion Criteria Provided
CA392412907 rs_2140998768

1 SubmittersRCV001594413

NM_017662.5(TRPM6):c.841+1G>A SNV
Germline
Chr9:74827777 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Multiple Submitters
No Conflicts
CA5085045 rs_371363425

3 SubmittersRCV001331790

NM_017662.5(TRPM6):c.4710G>A (p.Trp1570Ter) SNV
Germline
Chr9:74761771 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1 Criteria Provided
Conflicting Classifications
CA373684052 rs_2118838012

2 SubmittersRCV001726498

NM_017662.5(TRPM6):c.1308+7T>G SNV
Germline
Chr9:74816662 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Multiple Submitters
No Conflicts
CA2499219943 rs_2117943840

2 SubmittersRCV001726497

NM_017662.5(TRPM6):c.4057C>T (p.Arg1353Ter) SNV
Unknown
Chr9:74762614 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
CA373686202 rs_1444779891

1 SubmittersRCV001527399

NM_017662.5(TRPM6):c.3094+2T>C SNV
Unknown
Chr9:74782677 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
CA373670968 rs_2118927777

1 SubmittersRCV001527400

NM_017662.5(TRPM6):c.5314C>T (p.Arg1772Ter) SNV
Germline
Chr9:74739896 Pathogenic Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA373676470 rs_1263468898

2 SubmittersRCV001783915RCV003738097

NM_017662.5(TRPM6):c.4698G>T (p.Gly1566=) SNV
Germline
Chr9:74761783 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
CA194289366 rs_542601704

2 SubmittersRCV002026611RCV002479794

NM_017662.5(TRPM6):c.2782C>T (p.Arg928Ter) SNV
Germline
Chr9:74786011 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
CA5084447 rs_778418403

1 SubmittersRCV002052227

NM_017662.5(TRPM6):c.1959G>T (p.Lys653Asn) SNV
Germline
Chr9:74801948 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
CA5084696 rs_553896639

2 SubmittersRCV002193600RCV005042748

NM_017662.5(TRPM6):c.1308+1G>T SNV
Germline
Chr9:74816668 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
CA373692313 rs_2490067570

1 SubmittersRCV002283639

NM_017662.5(TRPM6):c.1437C>A (p.Tyr479Ter) SNV
Germline
Chr9:74812305 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
CA373691086 rs_1828760353

1 SubmittersRCV002285108

NM_017662.5(TRPM6):c.756T>A (p.Asp252Glu) SNV
Germline
Chr9:74827863 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
CA373694822 rs_1587550393

1 SubmittersRCV002285109

NM_017662.5(TRPM6):c.3158A>G (p.Tyr1053Cys) SNV
Germline
Chr9:74782413 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
CA373670650 rs_2489966877

1 SubmittersRCV002289441

NM_017662.5(TRPM6):c.886G>A (p.Gly296Ser) SNV
Germline
Chr9:74821793 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
CA194328087 rs_113003674

2 SubmittersRCV002643764RCV004720383

NM_017662.5(TRPM6):c.290C>T (p.Thr97Met) SNV
Germline
Chr9:74842206 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
CA5085174 rs_570794624

2 SubmittersRCV002942520RCV006560199

NM_017662.5(TRPM6):c.6032C>T (p.Thr2011Met) SNV
Germline
Chr9:74724650 Conflicting classifications of pathogenicity Inborn genetic diseases
Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
CA5083618 rs_150039342

3 SubmittersRCV003305832RCV003575066RCV005047514

NM_017662.5(TRPM6):c.3634C>T (p.Gln1212Ter) SNV
Germline
Chr9:74763037 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV004813411

NM_017662.5(TRPM6):c.2010-8C>T SNV
Germline
Chr9:74800490 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005048596RCV005105330

NM_017662.5(TRPM6):c.1638+7T>C SNV
Germline
Chr9:74808027 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005049183

NM_017662.5(TRPM6):c.1018C>T (p.Arg340Ter) SNV
Germline
Chr9:74820420 Pathogenic/Likely pathogenic Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005048618RCV005105332

NM_017662.5(TRPM6):c.238C>T (p.Gln80Ter) SNV
Germline
Chr9:74842258 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005048638

NM_017662.5(TRPM6):c.5827C>T (p.Gln1943Ter) SNV
Germline
Chr9:74732686 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005048521

NM_017662.5(TRPM6):c.4906+10A>T SNV
Germline
Chr9:74755343 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005049162RCV005105328

NM_017662.5(TRPM6):c.4440T>A (p.Cys1480Ter) SNV
Germline
Chr9:74762231 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005048544

NM_017662.5(TRPM6):c.4287C>A (p.Cys1429Ter) SNV
Germline
Chr9:74762384 Pathogenic/Likely pathogenic Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005049166RCV005105329

NM_017662.5(TRPM6):c.4004G>A (p.Arg1335Lys) SNV
Germline
Chr9:74762667 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005049170RCV005291140

NM_017662.5(TRPM6):c.2919+2T>C SNV
Germline
Chr9:74785872 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005048577

NM_017662.5(TRPM6):c.2397G>T (p.Glu799Asp) SNV
Germline
Chr9:74792765 Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005048588RCV005303475

NM_017662.5(TRPM6):c.2343G>A (p.Trp781Ter) SNV
Germline
Chr9:74796789 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005048590

NM_017662.5(TRPM6):c.3537-1G>A SNV
Germline
Chr9:74763135 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005237064

NM_017662.5(TRPM6):c.5742C>A (p.Tyr1914Ter) SNV
Germline
Chr9:74738441 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV005885899

NM_017662.5(TRPM6):c.1135-2A>G SNV
Germline
Chr9:74816966 Likely pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter

1 SubmittersRCV006258346