ClinVar Miner

List of variants in gene SLC12A6 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00061
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.2934+3G>A rs747032924 0.00014
NM_001365088.1(SLC12A6):c.221C>A (p.Ala74Glu) rs373526599 0.00010
NM_001365088.1(SLC12A6):c.293C>A (p.Thr98Lys) rs143956604 0.00010
NM_001365088.1(SLC12A6):c.3043-3C>G rs368682142 0.00008
NM_001365088.1(SLC12A6):c.2803-3C>G rs369901701 0.00007
NM_001365088.1(SLC12A6):c.1369A>T (p.Ile457Phe) rs751420584 0.00006
NM_001365088.1(SLC12A6):c.1663G>A (p.Val555Met) rs140635276 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.176C>G (p.Pro59Arg) rs777459849 0.00005
NM_001365088.1(SLC12A6):c.1484C>G (p.Ser495Cys) rs373077646 0.00004
NM_001365088.1(SLC12A6):c.148A>C (p.Ser50Arg) rs746317063 0.00004
NM_001365088.1(SLC12A6):c.47T>C (p.Met16Thr) rs746665611 0.00004
NM_001365088.1(SLC12A6):c.958G>A (p.Val320Ile) rs752427635 0.00004
NM_001365088.1(SLC12A6):c.1375G>A (p.Glu459Lys) rs772725042 0.00003
NM_001365088.1(SLC12A6):c.2003G>A (p.Arg668Gln) rs779359867 0.00003
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001365088.1(SLC12A6):c.455G>A (p.Arg152His) rs200361670 0.00003
NM_001365088.1(SLC12A6):c.955C>T (p.Arg319Cys) rs755778625 0.00002
NM_001365088.1(SLC12A6):c.1013G>A (p.Arg338His) rs769714833 0.00001
NM_001365088.1(SLC12A6):c.1036C>G (p.Leu346Val) rs1374588070 0.00001
NM_001365088.1(SLC12A6):c.1065C>G (p.Ile355Met) rs1229903219 0.00001
NM_001365088.1(SLC12A6):c.1109C>T (p.Pro370Leu) rs774246639 0.00001
NM_001365088.1(SLC12A6):c.1118+4C>T rs773294017 0.00001
NM_001365088.1(SLC12A6):c.1410C>T (p.Gly470=) rs772765619 0.00001
NM_001365088.1(SLC12A6):c.1457C>T (p.Thr486Met) rs748315324 0.00001
NM_001365088.1(SLC12A6):c.1614T>G (p.Phe538Leu) rs1057520062 0.00001
NM_001365088.1(SLC12A6):c.1688C>T (p.Thr563Ile) rs970501910 0.00001
NM_001365088.1(SLC12A6):c.1826T>C (p.Val609Ala) rs747694318 0.00001
NM_001365088.1(SLC12A6):c.1933A>G (p.Ile645Val) rs572342330 0.00001
NM_001365088.1(SLC12A6):c.2042G>C (p.Trp681Ser) rs1891819836 0.00001
NM_001365088.1(SLC12A6):c.206C>G (p.Ser69Trp) rs1018860694 0.00001
NM_001365088.1(SLC12A6):c.2323C>T (p.Arg775Cys) rs753271582 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.326A>G (p.His109Arg) rs764672829 0.00001
NM_001365088.1(SLC12A6):c.3G>A (p.Met1Ile) rs759559343 0.00001
NM_001365088.1(SLC12A6):c.483A>T (p.Gln161His) rs1316809325 0.00001
NM_001365088.1(SLC12A6):c.727A>T (p.Thr243Ser) rs1410645913 0.00001
NM_001365088.1(SLC12A6):c.73A>G (p.Ile25Val) rs1370247909 0.00001
NM_001365088.1(SLC12A6):c.877G>T (p.Val293Phe) rs1466259736 0.00001
NM_001365088.1(SLC12A6):c.940A>T (p.Met314Leu) rs34491959 0.00001
NM_001365088.1(SLC12A6):c.953T>C (p.Met318Thr) rs777759928 0.00001
NM_001365088.1(SLC12A6):c.97C>G (p.Pro33Ala) rs767685808 0.00001
NC_000015.9:g.(?_34526082)_(34527535_?)dup
NM_001365088.1(SLC12A6):c.1006G>A (p.Gly336Ser) rs200994998
NM_001365088.1(SLC12A6):c.1009G>A (p.Val337Ile)
NM_001365088.1(SLC12A6):c.1020G>A (p.Val340=)
NM_001365088.1(SLC12A6):c.1024A>G (p.Lys342Glu)
NM_001365088.1(SLC12A6):c.1025A>G (p.Lys342Arg)
NM_001365088.1(SLC12A6):c.103C>T (p.Leu35Phe) rs1454226326
NM_001365088.1(SLC12A6):c.1043T>C (p.Leu348Pro)
NM_001365088.1(SLC12A6):c.1069G>A (p.Ala357Thr)
NM_001365088.1(SLC12A6):c.1076A>G (p.Tyr359Cys)
NM_001365088.1(SLC12A6):c.107G>A (p.Ser36Asn) rs2141212975
NM_001365088.1(SLC12A6):c.1091A>C (p.Lys364Thr) rs200485502
NM_001365088.1(SLC12A6):c.1094CTT[1] (p.Ser366del) rs779390859
NM_001365088.1(SLC12A6):c.1100T>C (p.Phe367Ser) rs2140717533
NM_001365088.1(SLC12A6):c.1101T>G (p.Phe367Leu)
NM_001365088.1(SLC12A6):c.1109C>A (p.Pro370Gln)
NM_001365088.1(SLC12A6):c.1116C>A (p.Phe372Leu)
NM_001365088.1(SLC12A6):c.1118+4C>A
NM_001365088.1(SLC12A6):c.1118C>G (p.Pro373Arg)
NM_001365088.1(SLC12A6):c.1118C>T (p.Pro373Leu)
NM_001365088.1(SLC12A6):c.1120G>T (p.Val374Phe)
NM_001365088.1(SLC12A6):c.1128G>T (p.Met376Ile) rs2140737459
NM_001365088.1(SLC12A6):c.1138C>T (p.Arg380Cys)
NM_001365088.1(SLC12A6):c.113G>A (p.Arg38Gln)
NM_001365088.1(SLC12A6):c.1147TCA[1] (p.Ser384del) rs1892450807
NM_001365088.1(SLC12A6):c.1159A>G (p.Ile387Val) rs781345440
NM_001365088.1(SLC12A6):c.1165G>A (p.Val389Ile)
NM_001365088.1(SLC12A6):c.1172C>G (p.Ser391Cys)
NM_001365088.1(SLC12A6):c.1217_1218delinsTC (p.Trp406Phe)
NM_001365088.1(SLC12A6):c.1219G>A (p.Gly407Arg) rs745569165
NM_001365088.1(SLC12A6):c.1220G>T (p.Gly407Val)
NM_001365088.1(SLC12A6):c.1227C>A (p.Phe409Leu)
NM_001365088.1(SLC12A6):c.1231A>T (p.Asn411Tyr)
NM_001365088.1(SLC12A6):c.1235C>T (p.Ser412Leu)
NM_001365088.1(SLC12A6):c.1238G>A (p.Ser413Asn)
NM_001365088.1(SLC12A6):c.124C>G (p.Arg42Gly)
NM_001365088.1(SLC12A6):c.1274T>A (p.Val425Asp)
NM_001365088.1(SLC12A6):c.1292C>T (p.Ser431Leu)
NM_001365088.1(SLC12A6):c.1301G>C (p.Gly434Ala) rs2140735892
NM_001365088.1(SLC12A6):c.1318A>G (p.Ser440Gly) rs1892438412
NM_001365088.1(SLC12A6):c.1319G>C (p.Ser440Thr) rs1448474208
NM_001365088.1(SLC12A6):c.1322G>A (p.Gly441Asp) rs1192661841
NM_001365088.1(SLC12A6):c.1322G>T (p.Gly441Val) rs1192661841
NM_001365088.1(SLC12A6):c.1324A>G (p.Ile442Val)
NM_001365088.1(SLC12A6):c.1373T>C (p.Ile458Thr)
NM_001365088.1(SLC12A6):c.137G>A (p.Ser46Asn)
NM_001365088.1(SLC12A6):c.1381C>G (p.Pro461Ala) rs1892350716
NM_001365088.1(SLC12A6):c.1408G>C (p.Gly470Arg) rs2140728706
NM_001365088.1(SLC12A6):c.1411A>C (p.Ser471Arg)
NM_001365088.1(SLC12A6):c.1423G>A (p.Glu475Lys)
NM_001365088.1(SLC12A6):c.1459C>A (p.Leu487Ile)
NM_001365088.1(SLC12A6):c.1465G>A (p.Val489Met)
NM_001365088.1(SLC12A6):c.14A>G (p.Glu5Gly) rs770783522
NM_001365088.1(SLC12A6):c.1517C>G (p.Ser506Cys) rs2140726785
NM_001365088.1(SLC12A6):c.1525C>A (p.Leu509Met)
NM_001365088.1(SLC12A6):c.1549C>A (p.Pro517Thr)
NM_001365088.1(SLC12A6):c.1550C>T (p.Pro517Leu)
NM_001365088.1(SLC12A6):c.1575_1577dup (p.Thr527dup) rs1342378279
NM_001365088.1(SLC12A6):c.1576A>G (p.Thr526Ala) rs1555379629
NM_001365088.1(SLC12A6):c.1577C>T (p.Thr526Ile)
NM_001365088.1(SLC12A6):c.157G>C (p.Glu53Gln) rs2141212637
NM_001365088.1(SLC12A6):c.1598G>A (p.Ser533Asn)
NM_001365088.1(SLC12A6):c.161C>G (p.Thr54Arg)
NM_001365088.1(SLC12A6):c.1625T>C (p.Ile542Thr) rs958786620
NM_001365088.1(SLC12A6):c.1648A>G (p.Lys550Glu)
NM_001365088.1(SLC12A6):c.1669G>C (p.Gly557Arg) rs2140693680
NM_001365088.1(SLC12A6):c.166C>G (p.Arg56Gly)
NM_001365088.1(SLC12A6):c.1682T>C (p.Val561Ala)
NM_001365088.1(SLC12A6):c.1721T>C (p.Ile574Thr)
NM_001365088.1(SLC12A6):c.1726T>G (p.Ser576Ala)
NM_001365088.1(SLC12A6):c.1727C>T (p.Ser576Phe) rs1244030823
NM_001365088.1(SLC12A6):c.1728CTT[1] (p.Phe578del)
NM_001365088.1(SLC12A6):c.1747G>T (p.Ala583Ser)
NM_001365088.1(SLC12A6):c.1760G>A (p.Ser587Asn)
NM_001365088.1(SLC12A6):c.17CCA[2] (p.Thr8del) rs768255547
NM_001365088.1(SLC12A6):c.1814C>T (p.Pro605Leu)
NM_001365088.1(SLC12A6):c.1837A>T (p.Ser613Cys)
NM_001365088.1(SLC12A6):c.1847A>G (p.Asn616Ser) rs201468351
NM_001365088.1(SLC12A6):c.1856C>A (p.Pro619His)
NM_001365088.1(SLC12A6):c.1909G>T (p.Ala637Ser) rs2140689487
NM_001365088.1(SLC12A6):c.1910C>T (p.Ala637Val) rs2140689472
NM_001365088.1(SLC12A6):c.1922T>C (p.Leu641Pro)
NM_001365088.1(SLC12A6):c.1926G>A (p.Val642=) rs2140689385
NM_001365088.1(SLC12A6):c.1939T>C (p.Ser647Pro) rs879253966
NM_001365088.1(SLC12A6):c.1960T>A (p.Tyr654Asn)
NM_001365088.1(SLC12A6):c.197C>T (p.Ala66Val)
NM_001365088.1(SLC12A6):c.199A>G (p.Thr67Ala)
NM_001365088.1(SLC12A6):c.1A>G (p.Met1Val) rs1295560007
NM_001365088.1(SLC12A6):c.2012A>G (p.Asn671Ser)
NM_001365088.1(SLC12A6):c.2029C>G (p.Arg677Gly)
NM_001365088.1(SLC12A6):c.2030G>A (p.Arg677His)
NM_001365088.1(SLC12A6):c.2033A>G (p.Tyr678Cys) rs1566806106
NM_001365088.1(SLC12A6):c.2042+4A>G
NM_001365088.1(SLC12A6):c.2122G>C (p.Val708Leu)
NM_001365088.1(SLC12A6):c.2134A>G (p.Met712Val)
NM_001365088.1(SLC12A6):c.214A>G (p.Thr72Ala)
NM_001365088.1(SLC12A6):c.2163A>C (p.Gly721=)
NM_001365088.1(SLC12A6):c.2207G>C (p.Ser736Thr)
NM_001365088.1(SLC12A6):c.2215C>T (p.Arg739Trp)
NM_001365088.1(SLC12A6):c.2267+6G>T rs1205721914
NM_001365088.1(SLC12A6):c.2293C>G (p.Leu765Val) rs779541247
NM_001365088.1(SLC12A6):c.2299G>C (p.Glu767Gln)
NM_001365088.1(SLC12A6):c.2305T>G (p.Leu769Val) rs1044724997
NM_001365088.1(SLC12A6):c.2338G>C (p.Ala780Pro)
NM_001365088.1(SLC12A6):c.2377G>T (p.Gly793Cys)
NM_001365088.1(SLC12A6):c.2380T>G (p.Ser794Ala)
NM_001365088.1(SLC12A6):c.2387T>C (p.Ile796Thr)
NM_001365088.1(SLC12A6):c.2389G>A (p.Val797Met)
NM_001365088.1(SLC12A6):c.2389G>T (p.Val797Leu) rs1302200388
NM_001365088.1(SLC12A6):c.2413G>A (p.Gly805Ser)
NM_001365088.1(SLC12A6):c.2419G>A (p.Ala807Thr)
NM_001365088.1(SLC12A6):c.241C>T (p.Arg81Trp)
NM_001365088.1(SLC12A6):c.2436+1del rs515726215
NM_001365088.1(SLC12A6):c.2436+4A>G
NM_001365088.1(SLC12A6):c.259G>A (p.Asp87Asn)
NM_001365088.1(SLC12A6):c.25A>G (p.Lys9Glu) rs2141213584
NM_001365088.1(SLC12A6):c.2644G>C (p.Val882Leu)
NM_001365088.1(SLC12A6):c.2660A>G (p.His887Arg) rs1566801268
NM_001365088.1(SLC12A6):c.2666C>G (p.Ala889Gly)
NM_001365088.1(SLC12A6):c.2690_2692del (p.Ser897del) rs1555377235
NM_001365088.1(SLC12A6):c.272-5T>C
NM_001365088.1(SLC12A6):c.2731A>G (p.Ile911Val)
NM_001365088.1(SLC12A6):c.2745G>T (p.Trp915Cys)
NM_001365088.1(SLC12A6):c.2789T>A (p.Leu930Gln) rs2140649364
NM_001365088.1(SLC12A6):c.2810G>A (p.Arg937Gln)
NM_001365088.1(SLC12A6):c.2815T>C (p.Cys939Arg)
NM_001365088.1(SLC12A6):c.2855A>G (p.Asn952Ser) rs879254048
NM_001365088.1(SLC12A6):c.2870A>C (p.Lys957Thr)
NM_001365088.1(SLC12A6):c.289A>G (p.Ile97Val)
NM_001365088.1(SLC12A6):c.289A>T (p.Ile97Phe)
NM_001365088.1(SLC12A6):c.2934+12G>A
NM_001365088.1(SLC12A6):c.2968C>T (p.Arg990Cys)
NM_001365088.1(SLC12A6):c.3007C>T (p.His1003Tyr)
NM_001365088.1(SLC12A6):c.3013C>T (p.Arg1005Trp)
NM_001365088.1(SLC12A6):c.3014G>A (p.Arg1005Gln)
NM_001365088.1(SLC12A6):c.3058G>C (p.Asp1020His)
NM_001365088.1(SLC12A6):c.3070A>G (p.Met1024Val)
NM_001365088.1(SLC12A6):c.3072G>A (p.Met1024Ile)
NM_001365088.1(SLC12A6):c.3089T>C (p.Ile1030Thr)
NM_001365088.1(SLC12A6):c.3106G>A (p.Glu1036Lys)
NM_001365088.1(SLC12A6):c.3116A>T (p.Glu1039Val)
NM_001365088.1(SLC12A6):c.3126G>C (p.Gln1042His)
NM_001365088.1(SLC12A6):c.3129G>C (p.Glu1043Asp)
NM_001365088.1(SLC12A6):c.315A>G (p.Leu105=)
NM_001365088.1(SLC12A6):c.316+3A>G
NM_001365088.1(SLC12A6):c.316+5A>C
NM_001365088.1(SLC12A6):c.316+6G>C rs1894227805
NM_001365088.1(SLC12A6):c.3163A>G (p.Met1055Val)
NM_001365088.1(SLC12A6):c.3172C>T (p.Arg1058Trp)
NM_001365088.1(SLC12A6):c.3173G>A (p.Arg1058Gln)
NM_001365088.1(SLC12A6):c.3185C>T (p.Ala1062Val)
NM_001365088.1(SLC12A6):c.3193A>C (p.Met1065Leu)
NM_001365088.1(SLC12A6):c.3227C>T (p.Pro1076Leu)
NM_001365088.1(SLC12A6):c.3228-12T>A
NM_001365088.1(SLC12A6):c.322G>A (p.Gly108Arg)
NM_001365088.1(SLC12A6):c.3262G>C (p.Val1088Leu)
NM_001365088.1(SLC12A6):c.32C>T (p.Ala11Val)
NM_001365088.1(SLC12A6):c.3311T>C (p.Val1104Ala)
NM_001365088.1(SLC12A6):c.3320A>G (p.Asn1107Ser)
NM_001365088.1(SLC12A6):c.3360C>T (p.Asn1120=)
NM_001365088.1(SLC12A6):c.3398A>G (p.Glu1133Gly)
NM_001365088.1(SLC12A6):c.3401G>A (p.Arg1134Gln)
NM_001365088.1(SLC12A6):c.3415C>T (p.Arg1139Trp)
NM_001365088.1(SLC12A6):c.343G>A (p.Ala115Thr)
NM_001365088.1(SLC12A6):c.349C>G (p.Leu117Val)
NM_001365088.1(SLC12A6):c.373G>A (p.Gly125Arg)
NM_001365088.1(SLC12A6):c.374G>T (p.Gly125Val) rs759907642
NM_001365088.1(SLC12A6):c.374_375delinsAG (p.Gly125Glu) rs2140777796
NM_001365088.1(SLC12A6):c.376G>A (p.Asp126Asn) rs2140777746
NM_001365088.1(SLC12A6):c.419T>G (p.Met140Arg)
NM_001365088.1(SLC12A6):c.41G>A (p.Arg14Gln)
NM_001365088.1(SLC12A6):c.443C>G (p.Ser148Cys)
NM_001365088.1(SLC12A6):c.484G>A (p.Gly162Arg)
NM_001365088.1(SLC12A6):c.568G>A (p.Gly190Ser)
NM_001365088.1(SLC12A6):c.59C>G (p.Thr20Arg) rs2141213365
NM_001365088.1(SLC12A6):c.605T>G (p.Val202Gly)
NM_001365088.1(SLC12A6):c.617T>C (p.Leu206Ser)
NM_001365088.1(SLC12A6):c.68A>G (p.Asp23Gly)
NM_001365088.1(SLC12A6):c.694A>G (p.Met232Val)
NM_001365088.1(SLC12A6):c.695T>C (p.Met232Thr) rs2140734870
NM_001365088.1(SLC12A6):c.712A>G (p.Met238Val)
NM_001365088.1(SLC12A6):c.717T>A (p.Ser239Arg)
NM_001365088.1(SLC12A6):c.722T>G (p.Ile241Ser)
NM_001365088.1(SLC12A6):c.725C>T (p.Ala242Val) rs2140734739
NM_001365088.1(SLC12A6):c.74T>C (p.Ile25Thr)
NM_001365088.1(SLC12A6):c.766A>C (p.Ile256Leu)
NM_001365088.1(SLC12A6):c.775G>T (p.Ala259Ser)
NM_001365088.1(SLC12A6):c.776C>T (p.Ala259Val)
NM_001365088.1(SLC12A6):c.808C>T (p.Leu270Phe)
NM_001365088.1(SLC12A6):c.821T>C (p.Leu274Pro)
NM_001365088.1(SLC12A6):c.839C>G (p.Ala280Gly)
NM_001365088.1(SLC12A6):c.854T>G (p.Leu285Arg) rs2140726894
NM_001365088.1(SLC12A6):c.856G>T (p.Gly286Cys) rs2140726876
NM_001365088.1(SLC12A6):c.866A>G (p.Glu289Gly)
NM_001365088.1(SLC12A6):c.877-4A>G
NM_001365088.1(SLC12A6):c.877G>A (p.Val293Ile)
NM_001365088.1(SLC12A6):c.881A>G (p.Tyr294Cys)
NM_001365088.1(SLC12A6):c.886G>A (p.Val296Ile)
NM_001365088.1(SLC12A6):c.88G>A (p.Asp30Asn)
NM_001365088.1(SLC12A6):c.890C>A (p.Pro297His)
NM_001365088.1(SLC12A6):c.8C>T (p.Pro3Leu) rs2141213761
NM_001365088.1(SLC12A6):c.901A>G (p.Ile301Val)
NM_001365088.1(SLC12A6):c.919G>A (p.Ala307Thr)
NM_001365088.1(SLC12A6):c.922C>G (p.Leu308Val)
NM_001365088.1(SLC12A6):c.92C>G (p.Thr31Ser)
NM_001365088.1(SLC12A6):c.935C>G (p.Ala312Gly) rs1892614325
NM_001365088.1(SLC12A6):c.935C>T (p.Ala312Val)
NM_001365088.1(SLC12A6):c.952A>G (p.Met318Val)
NM_001365088.1(SLC12A6):c.956G>A (p.Arg319His) rs369334993
NM_001365088.1(SLC12A6):c.968C>G (p.Thr323Arg) rs2140719549
NM_001365088.1(SLC12A6):c.978G>T (p.Leu326Phe)
NM_001365088.1(SLC12A6):c.986T>C (p.Met329Thr)
NM_001365088.1(SLC12A6):c.987G>A (p.Met329Ile) rs1244690559
NM_001365088.1(SLC12A6):c.995T>C (p.Val332Ala) rs1595439064
NM_133647.2(SLC12A6):c.320_322del rs758672590

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