ClinVar Miner

List of variants in gene SLC12A6 studied for Inborn genetic diseases

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782 0.00836
NM_001365088.1(SLC12A6):c.1269C>T (p.Tyr423=) rs114911287 0.00588
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_001365088.1(SLC12A6):c.1752A>C (p.Gly584=) rs186888172 0.00067
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp) rs370477960 0.00019
NM_001365088.1(SLC12A6):c.1815G>A (p.Pro605=) rs141035492 0.00017
NM_001365088.1(SLC12A6):c.293C>A (p.Thr98Lys) rs143956604 0.00010
NM_001365088.1(SLC12A6):c.1601A>G (p.Asn534Ser) rs778821191 0.00007
NM_001365088.1(SLC12A6):c.1778G>A (p.Arg593Lys) rs779664776 0.00006
NM_001365088.1(SLC12A6):c.885C>T (p.Ile295=) rs146726039 0.00004
NM_001365088.1(SLC12A6):c.1375G>A (p.Glu459Lys) rs772725042 0.00003
NM_001365088.1(SLC12A6):c.3306G>A (p.Lys1102=) rs776625055 0.00003
NM_001365088.1(SLC12A6):c.2385C>T (p.Val795=) rs562984167 0.00002
NM_001365088.1(SLC12A6):c.3405C>G (p.Val1135=) rs1438411438 0.00002
NM_001365088.1(SLC12A6):c.1017T>C (p.Tyr339=) rs373193470 0.00001
NM_001365088.1(SLC12A6):c.1260T>C (p.Cys420=) rs1226622652 0.00001
NM_001365088.1(SLC12A6):c.1653C>T (p.Phe551=) rs780775015 0.00001
NM_001365088.1(SLC12A6):c.1826T>C (p.Val609Ala) rs747694318 0.00001
NM_001365088.1(SLC12A6):c.2323C>T (p.Arg775Cys) rs753271582 0.00001
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter) rs1057516262 0.00001
NM_001365088.1(SLC12A6):c.1063A>C (p.Ile355Leu)
NM_001365088.1(SLC12A6):c.1216T>C (p.Trp406Arg)
NM_001365088.1(SLC12A6):c.1217G>T (p.Trp406Leu)
NM_001365088.1(SLC12A6):c.1218G>C (p.Trp406Cys)
NM_001365088.1(SLC12A6):c.1236G>C (p.Ser412=) rs2290940
NM_001365088.1(SLC12A6):c.1280A>G (p.Asn427Ser)
NM_001365088.1(SLC12A6):c.1307C>T (p.Pro436Leu)
NM_001365088.1(SLC12A6):c.1458G>A (p.Thr486=) rs781102586
NM_001365088.1(SLC12A6):c.1598G>A (p.Ser533Asn)
NM_001365088.1(SLC12A6):c.1630G>T (p.Gly544Trp)
NM_001365088.1(SLC12A6):c.1632G>A (p.Gly544=) rs538172969
NM_001365088.1(SLC12A6):c.1682T>C (p.Val561Ala)
NM_001365088.1(SLC12A6):c.1708T>C (p.Trp570Arg)
NM_001365088.1(SLC12A6):c.1956G>T (p.Met652Ile)
NM_001365088.1(SLC12A6):c.2057T>A (p.Met686Lys)
NM_001365088.1(SLC12A6):c.2144A>G (p.Lys715Arg)
NM_001365088.1(SLC12A6):c.2231G>A (p.Arg744Gln)
NM_001365088.1(SLC12A6):c.2317C>T (p.His773Tyr)
NM_001365088.1(SLC12A6):c.2420C>T (p.Ala807Val)
NM_001365088.1(SLC12A6):c.2687T>C (p.Ile896Thr)
NM_001365088.1(SLC12A6):c.271+17756G>A
NM_001365088.1(SLC12A6):c.271+17781C>T
NM_001365088.1(SLC12A6):c.2729A>G (p.Asn910Ser)
NM_001365088.1(SLC12A6):c.2802+6T>C
NM_001365088.1(SLC12A6):c.282G>A (p.Gln94=)
NM_001365088.1(SLC12A6):c.2892A>G (p.Leu964=) rs760148830
NM_001365088.1(SLC12A6):c.3042+1G>A
NM_001365088.1(SLC12A6):c.3163A>G (p.Met1055Val)
NM_001365088.1(SLC12A6):c.317-6_317-5dup
NM_001365088.1(SLC12A6):c.3262G>C (p.Val1088Leu)
NM_001365088.1(SLC12A6):c.362A>G (p.Asn121Ser)
NM_001365088.1(SLC12A6):c.424A>G (p.Thr142Ala)
NM_001365088.1(SLC12A6):c.455G>T (p.Arg152Leu)
NM_001365088.1(SLC12A6):c.481C>A (p.Gln161Lys)
NM_001365088.1(SLC12A6):c.549C>T (p.Pro183=)
NM_001365088.1(SLC12A6):c.560C>T (p.Thr187Ile)
NM_001365088.1(SLC12A6):c.568G>T (p.Gly190Cys)
NM_001365088.1(SLC12A6):c.695T>C (p.Met232Thr) rs2140734870
NM_001365088.1(SLC12A6):c.735A>T (p.Gly245=)
NM_001365088.1(SLC12A6):c.775G>T (p.Ala259Ser)
NM_001365088.1(SLC12A6):c.804T>C (p.Val268=)
NM_001365088.1(SLC12A6):c.886G>A (p.Val296Ile)
NM_001365088.1(SLC12A6):c.985A>G (p.Met329Val)

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