ClinVar Miner

List of variants in gene SLC12A6 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.776del (p.Ala259fs) rs776790336 0.00005
NM_001365088.1(SLC12A6):c.3400C>T (p.Arg1134Ter) rs606231229 0.00003
NM_001365088.1(SLC12A6):c.2230C>T (p.Arg744Ter) rs751184319 0.00002
NM_001365088.1(SLC12A6):c.2043-2A>G rs1372841592 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter) rs121908427 0.00001
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter) rs199747285 0.00001
NM_001365088.1(SLC12A6):c.892C>T (p.Arg298Ter) rs897661402 0.00001
NC_000015.9:g.(?_34526072)_(34631468_?)del
NC_000015.9:g.(?_34526082)_(34628881_?)del
NC_000015.9:g.(?_34537874)_(34543278_?)del
NC_000015.9:g.(?_34628591)_(34628881_?)del
NM_001365088.1(SLC12A6):c.1002dup (p.Ile335fs)
NM_001365088.1(SLC12A6):c.1007del (p.Gly336fs)
NM_001365088.1(SLC12A6):c.1118+1G>A rs762730861
NM_001365088.1(SLC12A6):c.112C>T (p.Arg38Ter)
NM_001365088.1(SLC12A6):c.1151C>G (p.Ser384Ter) rs1892451015
NM_001365088.1(SLC12A6):c.124C>T (p.Arg42Ter)
NM_001365088.1(SLC12A6):c.1478_1485del (p.Phe493fs) rs515726218
NM_001365088.1(SLC12A6):c.1540A>T (p.Lys514Ter)
NM_001365088.1(SLC12A6):c.1584_1585delinsG (p.Phe529fs) rs515726216
NM_001365088.1(SLC12A6):c.1614del (p.Phe538fs) rs1481540503
NM_001365088.1(SLC12A6):c.1620_1621del (p.Cys541fs) rs2140724680
NM_001365088.1(SLC12A6):c.1639del (p.Leu547fs) rs2140724562
NM_001365088.1(SLC12A6):c.1655G>A (p.Gly552Asp) rs2140693876
NM_001365088.1(SLC12A6):c.1728CTT[1] (p.Phe578del)
NM_001365088.1(SLC12A6):c.1786C>T (p.Gln596Ter)
NM_001365088.1(SLC12A6):c.1950dup (p.Leu651fs)
NM_001365088.1(SLC12A6):c.1962C>A (p.Tyr654Ter) rs780221317
NM_001365088.1(SLC12A6):c.2002C>T (p.Arg668Ter)
NM_001365088.1(SLC12A6):c.2002_2003insTGGA (p.Arg668fs) rs2140682397
NM_001365088.1(SLC12A6):c.2015G>A (p.Trp672Ter) rs2140682314
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001365088.1(SLC12A6):c.2032dup (p.Tyr678fs) rs515726217
NM_001365088.1(SLC12A6):c.2036A>C (p.Tyr679Ser)
NM_001365088.1(SLC12A6):c.2036A>G (p.Tyr679Cys) rs2140682156
NM_001365088.1(SLC12A6):c.2068_2071del (p.Ile690fs)
NM_001365088.1(SLC12A6):c.206C>A (p.Ser69Ter)
NM_001365088.1(SLC12A6):c.2142C>G (p.Tyr714Ter) rs2140670185
NM_001365088.1(SLC12A6):c.2157C>G (p.Tyr719Ter) rs2140670011
NM_001365088.1(SLC12A6):c.2180del (p.Gly727fs)
NM_001365088.1(SLC12A6):c.2180dup (p.Gly727_Asp728insTer)
NM_001365088.1(SLC12A6):c.2272C>T (p.Gln758Ter)
NM_001365088.1(SLC12A6):c.2370dup (p.Ile791fs)
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.250dup (p.His84fs) rs1057518713
NM_001365088.1(SLC12A6):c.256C>T (p.Gln86Ter)
NM_001365088.1(SLC12A6):c.262_263del (p.Val88fs)
NM_001365088.1(SLC12A6):c.2641C>T (p.Arg881Ter)
NM_001365088.1(SLC12A6):c.2650dup (p.Thr884fs)
NM_001365088.1(SLC12A6):c.2685del (p.Asn895fs)
NM_001365088.1(SLC12A6):c.2710G>T (p.Glu904Ter) rs767245568
NM_001365088.1(SLC12A6):c.2736dup (p.Val913fs)
NM_001365088.1(SLC12A6):c.2808G>A (p.Trp936Ter)
NM_001365088.1(SLC12A6):c.2893dup (p.Tyr965fs) rs1275422176
NM_001365088.1(SLC12A6):c.28dup (p.Met10fs)
NM_001365088.1(SLC12A6):c.294_295del (p.Glu100fs) rs1292460656
NM_001365088.1(SLC12A6):c.2962_2963dup (p.Glu989fs) rs2140641550
NM_001365088.1(SLC12A6):c.2971A>G (p.Thr991Ala)
NM_001365088.1(SLC12A6):c.2983G>T (p.Glu995Ter) rs1891297825
NM_001365088.1(SLC12A6):c.298G>T (p.Glu100Ter) rs573444140
NM_001365088.1(SLC12A6):c.2995_3004del (p.Gln999fs) rs606231158
NM_001365088.1(SLC12A6):c.3061C>T (p.Arg1021Ter)
NM_001365088.1(SLC12A6):c.3113_3114del (p.Thr1038fs)
NM_001365088.1(SLC12A6):c.3146G>A (p.Trp1049Ter)
NM_001365088.1(SLC12A6):c.3178C>T (p.Gln1060Ter)
NM_001365088.1(SLC12A6):c.3196del (p.Glu1066fs)
NM_001365088.1(SLC12A6):c.3205C>T (p.Gln1069Ter)
NM_001365088.1(SLC12A6):c.3220dup (p.Met1074fs) rs1057517289
NM_001365088.1(SLC12A6):c.3321del (p.Asn1107fs)
NM_001365088.1(SLC12A6):c.3361+1G>C
NM_001365088.1(SLC12A6):c.337C>T (p.Arg113Ter) rs1054429141
NM_001365088.1(SLC12A6):c.366T>G (p.Tyr122Ter) rs2140778033
NM_001365088.1(SLC12A6):c.390dup (p.Lys131Ter) rs2140777637
NM_001365088.1(SLC12A6):c.407_408del (p.Leu135_Phe136insTer)
NM_001365088.1(SLC12A6):c.47del (p.Met16fs)
NM_001365088.1(SLC12A6):c.550C>T (p.Gln184Ter) rs935119099
NM_001365088.1(SLC12A6):c.550_551insT (p.Gln184fs)
NM_001365088.1(SLC12A6):c.563dup (p.Met189fs)
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs) rs775111365
NM_001365088.1(SLC12A6):c.745+2T>A rs1555380998
NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs) rs1555380716
NM_001365088.1(SLC12A6):c.865G>A (p.Glu289Lys)
NM_001365088.1(SLC12A6):c.901del (p.Ile301fs) rs606231157
NM_001365088.1(SLC12A6):c.963C>A (p.Tyr321Ter) rs35583475

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.