Total 36 pathogenic variants reported for Primary hypomagnesemia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_006580.4(CLDN16):c.235C>T (p.Arg79Ter) SNV
Germline		 Chr3:190404779 Pathogenic Primary hypomagnesemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117857 rs_104893720

6 SubmittersRCV000006288RCV002512826
NM_006580.4(CLDN16):c.505G>A (p.Gly169Arg) SNV
Germline		 Chr3:190408436 Pathogenic Primary hypomagnesemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA117859 rs_104893721

2 SubmittersRCV000006289RCV001851693
NM_006580.4(CLDN16):c.361G>A (p.Gly121Arg) SNV
Germline		 Chr3:190404905 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 CA117860 rs_104893722

1 SubmittersRCV000006290
NM_006580.4(CLDN16):c.383G>A (p.Gly128Asp) SNV
Germline		 Chr3:190408314 Likely pathogenic Primary hypomagnesemia Criteria Provided
Single Submitter
 CA117861 rs_104893723

2 SubmittersRCV000006291
NM_006580.4(CLDN16):c.2T>G (p.Met1Arg) SNV
Germline		 Chr3:190388331 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 CA117862 rs_104893724

1 SubmittersRCV000006292
NM_006580.4(CLDN16):c.290T>C (p.Leu97Pro) SNV
Germline		 Chr3:190404834 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 CA117863 rs_104893725

1 SubmittersRCV000006293
NM_006580.4(CLDN16):c.488G>A (p.Gly163Asp) SNV
Germline		 Chr3:190408419 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 CA117865 rs_104893727

1 SubmittersRCV000006295
NM_006580.4(CLDN16):c.494C>T (p.Ser165Phe) SNV
Germline		 Chr3:190408425 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 CA117866 rs_104893728

1 SubmittersRCV000006296
NM_006580.4(CLDN16):c.243G>T (p.Leu81Phe) SNV
Germline		 Chr3:190404787 Pathogenic Primary hypomagnesemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117867 rs_104893729

5 SubmittersRCV000006297RCV001093267
NM_006580.4(CLDN16):c.242T>G (p.Leu81Trp) SNV
Germline		 Chr3:190404786 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 CA117868 rs_104893730

1 SubmittersRCV000006298
NM_006580.4(CLDN16):c.224T>C (p.Leu75Pro) SNV
Germline		 Chr3:190404768 Pathogenic Primary hypomagnesemia
Condition: not provided		 Criteria Provided
Single Submitter
 CA117869 rs_104893731

2 SubmittersRCV000006299RCV001851694
NM_006580.4(CLDN16):c.140G>A (p.Trp47Ter) SNV
Germline		 Chr3:190402362 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 CA117870 rs_104893732

1 SubmittersRCV000006300
NM_006580.4(CLDN16):c.453G>T (p.Leu151Phe) SNV
Germline		 Chr3:190408384 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided

1 SubmittersRCV000006301
NM_006580.4(CLDN16):c.621T>G (p.Tyr207Ter) SNV
Germline		 Chr3:190409949 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 CA117874 rs_121908543

1 SubmittersRCV000006303
NM_006580.4(CLDN16):c.613A>T (p.Lys205Ter) SNV
Germline		 Chr3:190409941 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 CA129189 rs_387906880

1 SubmittersRCV000023358
NM_006580.3(CLDN16):c.-3A>T SNV
Germline		 Chr3:190388117 Conflicting classifications of pathogenicity Primary hypomagnesemia
CLDN16-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2753674 rs_200322099

3 SubmittersRCV000379857RCV003950211RCV002280116
NM_006580.4(CLDN16):c.114+13C>G SNV
Germline		 Chr3:190388456 Conflicting classifications of pathogenicity Primary hypomagnesemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2753744 rs_369250510

2 SubmittersRCV000315060RCV002057872
NM_006580.4(CLDN16):c.117G>A (p.Val39=) SNV
Germline		 Chr3:190402339 Conflicting classifications of pathogenicity Primary hypomagnesemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2753763 rs_528344809

2 SubmittersRCV000369762RCV000921476
NM_006580.4(CLDN16):c.206C>T (p.Ala69Val) SNV
Germline		 Chr3:190402428 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 rs_765256758

1 SubmittersRCV000656736
NM_006580.4(CLDN16):c.392G>A (p.Gly131Glu) SNV
Unknown		 Chr3:190408323 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 rs_138308105

1 SubmittersRCV000678491
NM_006580.4(CLDN16):c.217+5G>A SNV
Germline		 Chr3:190402444 Likely pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 rs_751959432

1 SubmittersRCV000853501
NM_006580.4(CLDN16):c.626C>A (p.Ala209Asp) SNV
Germline		 Chr3:190409954 Conflicting classifications of pathogenicity Condition: not provided
Primary hypomagnesemia
CLDN16-related disorder		 Criteria Provided
Conflicting Classifications
 rs_139846352

4 SubmittersRCV000886541RCV001144100RCV003920663
NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg) SNV
Unknown		 Chr3:190404926 Likely pathogenic Primary hypomagnesemia Criteria Provided
Single Submitter
 rs_1577430815

1 SubmittersRCV000987375
NM_006580.4(CLDN16):c.437G>A (p.Arg146His) SNV
Germline		 Chr3:190408368 Pathogenic/Likely pathogenic Condition: not provided
Primary hypomagnesemia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_772241737

3 SubmittersRCV001093268RCV003142041
NM_006580.4(CLDN16):c.22A>G (p.Ile8Val) SNV
Germline		 Chr3:190388351 Conflicting classifications of pathogenicity Primary hypomagnesemia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_145118503

3 SubmittersRCV001150244RCV004032782
NM_006580.4(CLDN16):c.192C>T (p.Tyr64=) SNV
Germline		 Chr3:190402414 Conflicting classifications of pathogenicity Primary hypomagnesemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_199651054

2 SubmittersRCV001144095RCV003727906
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) SNV
Germline		 Chr3:190408389 Conflicting classifications of pathogenicity Primary hypomagnesemia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_201367228

3 SubmittersRCV001281173RCV001879805RCV002570440
NM_006580.4(CLDN16):c.2T>C (p.Met1Thr) SNV
Germline		 Chr3:190388331 Conflicting classifications of pathogenicity Primary hypomagnesemia Criteria Provided
Conflicting Classifications
 rs_104893724

2 SubmittersRCV001329583
NM_006580.4(CLDN16):c.236G>A (p.Arg79Gln) SNV
Germline		 Chr3:190404780 Pathogenic Primary hypomagnesemia No Assertion Criteria Provided
 rs_968906940

1 SubmittersRCV001564039
NM_006580.4(CLDN16):c.137T>C (p.Leu46Pro) SNV
Germline		 Chr3:190402359 Likely pathogenic Primary hypomagnesemia Criteria Provided
Single Submitter
 rs_2108670592

2 SubmittersRCV001568363
NM_006580.4(CLDN16):c.103G>A (p.Asp35Asn) SNV
Germline		 Chr3:190388432 Likely pathogenic Primary hypomagnesemia Criteria Provided
Single Submitter
 rs_2108658339

2 SubmittersRCV001568368
NM_006580.4(CLDN16):c.494C>A (p.Ser165Tyr) SNV
Germline		 Chr3:190408425 Likely pathogenic Primary hypomagnesemia Criteria Provided
Single Submitter
 rs_104893728

1 SubmittersRCV001780794
NM_006580.4(CLDN16):c.487G>T (p.Gly163Cys) SNV
Germline		 Chr3:190408418 Likely pathogenic Condition: not provided
Primary hypomagnesemia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1577432872

2 SubmittersRCV002226068RCV002502045
NM_006580.4(CLDN16):c.574+2T>C SNV
Germline		 Chr3:190408507 Likely pathogenic Primary hypomagnesemia Criteria Provided
Single Submitter

1 SubmittersRCV003994626