Total 51 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
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 Intestinal hypomagnesemia 1
Condition: not provided
Criteria Provided
Single Submitter
CA116372 rs_121912624

2 SubmittersRCV000003765RCV002512721

NM_017662.5(TRPM6):c.1010+5G>C SNV
Germline
Chr9:74821664 Pathogenic Intestinal hypomagnesemia 1 No Assertion Criteria Provided
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.3173A>G (p.Tyr1058Cys) SNV
Germline
Chr9:74782398 Pathogenic Intestinal hypomagnesemia 1 No Assertion Criteria Provided
CA206486 rs_797045204

1 SubmittersRCV000193181

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
TRPM6-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA5084557 rs_200248159

3 SubmittersRCV000361902RCV003957875RCV003736749

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
Criteria Provided
Conflicting Classifications
CA5084600 rs_143164660

4 SubmittersRCV000272758RCV000879630RCV003932523

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
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA5085182 rs_191344898

3 SubmittersRCV000363307RCV002524604RCV002524605

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.3726G>A (p.Lys1242=) SNV
Germline
Chr9:74762945 Conflicting classifications of pathogenicity Condition: not provided
Intestinal hypomagnesemia 1
Criteria Provided
Conflicting Classifications
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
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
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
rs_138880537

2 SubmittersRCV000917425RCV001168612

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

2 SubmittersRCV000914169RCV001168551

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
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
Criteria Provided
Conflicting Classifications
rs_570955795

2 SubmittersRCV001166897RCV003973122

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
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
rs_148603803

2 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
rs_140835112

3 SubmittersRCV001169375RCV002067837RCV003908423

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
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
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
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
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
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
rs_2059709974

1 SubmittersRCV001251044

NM_001414947.1(LOC128092252):c.187+1G>C SNV
Unknown
Chr15:50686530 Pathogenic Intestinal hypomagnesemia 1 No Assertion Criteria Provided
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
rs_371363425

2 SubmittersRCV001331790

NM_017662.5(TRPM6):c.1308+7T>G SNV
Germline
Chr9:74816662 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
rs_2117943840

1 SubmittersRCV001726497

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

1 SubmittersRCV001527399

NM_017662.5(TRPM6):c.3094+2T>C SNV
Unknown
Chr9:74782677 Pathogenic Intestinal hypomagnesemia 1 Criteria Provided
Single Submitter
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
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
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
rs_778418403

1 SubmittersRCV002052227

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

1 SubmittersRCV002283639

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

1 SubmittersRCV002285108

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

1 SubmittersRCV002285109

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

1 SubmittersRCV002289441