ClinVar Miner

List of variants in gene SLC12A6 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.1250A>G (p.Asn417Ser) rs199945338 0.00034
NM_001365088.1(SLC12A6):c.1139G>A (p.Arg380His) rs375887656 0.00016
NM_001365088.1(SLC12A6):c.221C>A (p.Ala74Glu) rs373526599 0.00010
NM_001365088.1(SLC12A6):c.3043-3C>G rs368682142 0.00008
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser) rs778821191 0.00006
NM_001365088.1(SLC12A6):c.1778G>A (p.Arg593Lys) rs779664776 0.00006
NM_001365088.1(SLC12A6):c.338G>A (p.Arg113Gln) rs371696267 0.00006
NM_001365088.1(SLC12A6):c.1280A>G (p.Asn427Ser) rs1295620383 0.00005
NM_001365088.1(SLC12A6):c.176C>G (p.Pro59Arg) rs777459849 0.00005
NM_001365088.1(SLC12A6):c.952A>G (p.Met318Val) rs139990908 0.00005
NM_001365088.1(SLC12A6):c.958G>A (p.Val320Ile) rs752427635 0.00004
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001365088.1(SLC12A6):c.259G>A (p.Asp87Asn) rs200288608 0.00003
NM_001365088.1(SLC12A6):c.2003G>A (p.Arg668Gln) rs779359867 0.00002
NM_001365088.1(SLC12A6):c.1109C>T (p.Pro370Leu) rs774246639 0.00001
NM_001365088.1(SLC12A6):c.1933A>G (p.Ile645Val) rs572342330 0.00001
NM_001365088.1(SLC12A6):c.2732T>C (p.Ile911Thr) rs772527464 0.00001
NM_001365088.1(SLC12A6):c.3109G>A (p.Glu1037Lys) rs775973016 0.00001
NM_001365088.1(SLC12A6):c.73A>G (p.Ile25Val) rs1370247909 0.00001
NM_001365088.1(SLC12A6):c.97C>G (p.Pro33Ala) rs767685808 0.00001
NM_001365088.1(SLC12A6):c.103C>T (p.Leu35Phe) rs1454226326
NM_001365088.1(SLC12A6):c.107G>A (p.Ser36Asn) rs2141212975
NM_001365088.1(SLC12A6):c.1094CTT[1] (p.Ser366del) rs779390859
NM_001365088.1(SLC12A6):c.1118C>T (p.Pro373Leu) rs368994065
NM_001365088.1(SLC12A6):c.1147TCA[1] (p.Ser384del) rs1892450807
NM_001365088.1(SLC12A6):c.1217_1218delinsTC (p.Trp406Phe) rs2509809285
NM_001365088.1(SLC12A6):c.1322G>A (p.Gly441Asp) rs1192661841
NM_001365088.1(SLC12A6):c.1372A>T (p.Ile458Phe)
NM_001365088.1(SLC12A6):c.157G>C (p.Glu53Gln) rs2141212637
NM_001365088.1(SLC12A6):c.1705C>G (p.Pro569Ala)
NM_001365088.1(SLC12A6):c.1817T>C (p.Phe606Ser)
NM_001365088.1(SLC12A6):c.1939T>C (p.Ser647Pro) rs879253966
NM_001365088.1(SLC12A6):c.199A>G (p.Thr67Ala) rs200556194
NM_001365088.1(SLC12A6):c.2029C>G (p.Arg677Gly) rs775137770
NM_001365088.1(SLC12A6):c.2030G>A (p.Arg677His) rs1351667158
NM_001365088.1(SLC12A6):c.2033A>G (p.Tyr678Cys) rs1566806106
NM_001365088.1(SLC12A6):c.2056A>G (p.Met686Val)
NM_001365088.1(SLC12A6):c.2660A>G (p.His887Arg) rs1566801268
NM_001365088.1(SLC12A6):c.275T>C (p.Leu92Pro)
NM_001365088.1(SLC12A6):c.2840C>T (p.Ala947Val)
NM_001365088.1(SLC12A6):c.2855A>G (p.Asn952Ser) rs879254048
NM_001365088.1(SLC12A6):c.3095C>G (p.Ser1032Cys)
NM_001365088.1(SLC12A6):c.3404T>G (p.Val1135Gly)
NM_001365088.1(SLC12A6):c.374G>T (p.Gly125Val) rs759907642
NM_001365088.1(SLC12A6):c.484G>A (p.Gly162Arg) rs1892929380
NM_001365088.1(SLC12A6):c.49G>T (p.Val17Leu)
NM_001365088.1(SLC12A6):c.717T>A (p.Ser239Arg) rs2509826440
NM_001365088.1(SLC12A6):c.745+4A>G
NM_001365088.1(SLC12A6):c.79G>T (p.Gly27Cys)
NM_133647.2(SLC12A6):c.320_322del rs758672590

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.