ClinVar Miner

List of variants in gene SLC12A3 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 225
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380 0.00011
NM_001126108.2(SLC12A3):c.2554C>T (p.Arg852Cys) rs373899077 0.00011
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met) rs145337602 0.00009
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His) rs759532318 0.00008
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu) rs148038173 0.00008
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val) rs373901523 0.00008
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767 0.00008
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.1390G>A (p.Ala464Thr) rs201945662 0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481 0.00006
NM_001126108.2(SLC12A3):c.482G>A (p.Trp161Ter) rs201190064 0.00006
NM_001126108.2(SLC12A3):c.2037+1G>A rs775799617 0.00005
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg) rs752101663 0.00005
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_001126108.2(SLC12A3):c.179C>T (p.Thr60Met) rs371443644 0.00004
NM_001126108.2(SLC12A3):c.248G>A (p.Arg83Gln) rs768527231 0.00004
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00004
NM_001126108.2(SLC12A3):c.473G>A (p.Arg158Gln) rs1274973729 0.00004
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln) rs758035631 0.00004
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719 0.00004
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu) rs779160677 0.00003
NM_001126108.2(SLC12A3):c.1925G>A (p.Arg642His) rs147901432 0.00003
NM_001126108.2(SLC12A3):c.247C>T (p.Arg83Trp) rs201255508 0.00003
NM_001126108.2(SLC12A3):c.2505G>A (p.Trp835Ter) rs1366655422 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001126108.2(SLC12A3):c.644T>C (p.Leu215Pro) rs780594361 0.00003
NM_001126108.2(SLC12A3):c.1175C>T (p.Thr392Ile) rs748575829 0.00002
NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys) rs775931992 0.00002
NM_001126108.2(SLC12A3):c.1489A>T (p.Lys497Ter) rs746818109 0.00002
NM_001126108.2(SLC12A3):c.2029G>A (p.Val677Met) rs771326058 0.00002
NM_001126108.2(SLC12A3):c.2717_2720dup (p.His907fs) rs750735794 0.00002
NM_001126108.2(SLC12A3):c.911C>T (p.Thr304Met) rs755069436 0.00002
NM_001126108.2(SLC12A3):c.947G>T (p.Gly316Val) rs748920885 0.00002
NM_001126108.2(SLC12A3):c.1046C>T (p.Pro349Leu) rs121909383 0.00001
NM_001126108.2(SLC12A3):c.1095+1G>T rs1310654829 0.00001
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.1261T>C (p.Cys421Arg) rs28936387 0.00001
NM_001126108.2(SLC12A3):c.1456G>A (p.Asp486Asn) rs753523115 0.00001
NM_001126108.2(SLC12A3):c.1567G>A (p.Ala523Thr) rs781137708 0.00001
NM_001126108.2(SLC12A3):c.1568-1G>A rs199511487 0.00001
NM_001126108.2(SLC12A3):c.1868T>C (p.Leu623Pro) rs121909385 0.00001
NM_001126108.2(SLC12A3):c.1926-1G>T rs755560627 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001126108.2(SLC12A3):c.2089_2095del (p.Thr697fs) rs771701344 0.00001
NM_001126108.2(SLC12A3):c.2515G>A (p.Asp839Asn) rs1298687889 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His) rs751929135 0.00001
NM_001126108.2(SLC12A3):c.2633+1G>A rs778455414 0.00001
NM_001126108.2(SLC12A3):c.2660G>A (p.Arg887Gln) rs369360334 0.00001
NM_001126108.2(SLC12A3):c.2851_2852insAGGGGTGCACCCTC (p.Val951fs) rs754576009 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 0.00001
NM_001126108.2(SLC12A3):c.438C>A (p.Cys146Ter) rs751409326 0.00001
NM_001126108.2(SLC12A3):c.488C>T (p.Thr163Met) rs267607050 0.00001
NM_001126108.2(SLC12A3):c.506-1G>A rs201555148 0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001126108.2(SLC12A3):c.533C>T (p.Ser178Leu) rs772589653 0.00001
NM_001126108.2(SLC12A3):c.539_543del (p.Thr180fs) rs1246662762 0.00001
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp) rs759426055 0.00001
NM_001126108.2(SLC12A3):c.595_596del (p.Lys199fs) rs2055066583 0.00001
NM_001126108.2(SLC12A3):c.602-2A>G rs766670862 0.00001
NM_001126108.2(SLC12A3):c.625C>T (p.Arg209Trp) rs28936388 0.00001
NM_001126108.2(SLC12A3):c.741+1G>A rs1187506921 0.00001
NM_001126108.2(SLC12A3):c.910A>C (p.Thr304Pro) rs753840283 0.00001
NC_000016.10:g.(?_56869719)_(56870746_?)del
NC_000016.10:g.(?_56885255)_(56887103_?)del
NC_000016.10:g.(?_56902363)_(56904472_?)del
NC_000016.10:g.(?_56913254)_(56913415_?)del
NC_000016.10:g.56865169_56865258del
NC_000016.10:g.56872351del
NC_000016.10:g.56886954del rs2144729905
NC_000016.9:g.(?_56897620)_(56906303_?)del
NC_000016.9:g.(?_56900972)_(56902294_?)del
NC_000016.9:g.(?_56906253)_(56912083_?)del
NC_000016.9:g.(?_56911979)_(56918126_?)dup
NC_000016.9:g.(?_56917770)_(56918126_?)del
NC_000016.9:g.(?_56921827)_(56921953_?)del
NC_000016.9:g.(?_56925985)_(56936430_?)del
NC_000016.9:g.(?_56938297)_(56938384_?)del
NM_001126108.2(SLC12A3):c.1000C>T (p.Arg334Trp)
NM_001126108.2(SLC12A3):c.1024G>T (p.Gly342Ter)
NM_001126108.2(SLC12A3):c.1045C>T (p.Pro349Ser)
NM_001126108.2(SLC12A3):c.1047del (p.Ser350fs) rs2144695707
NM_001126108.2(SLC12A3):c.1072del (p.Ala358fs)
NM_001126108.2(SLC12A3):c.1077C>G (p.Asn359Lys) rs181865675
NM_001126108.2(SLC12A3):c.1084G>A (p.Gly362Ser)
NM_001126108.2(SLC12A3):c.1095+1G>C
NM_001126108.2(SLC12A3):c.1143G>A (p.Trp381Ter)
NM_001126108.2(SLC12A3):c.1180+2T>C rs1212299212
NM_001126108.2(SLC12A3):c.1181G>A (p.Gly394Asp) rs777815715
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter) rs747139582
NM_001126108.2(SLC12A3):c.1196G>C (p.Arg399Pro)
NM_001126108.2(SLC12A3):c.1196G>T (p.Arg399Leu) rs13306668
NM_001126108.2(SLC12A3):c.1196_1202dup (p.Ala401_Ser402insTer) rs751871500
NM_001126108.2(SLC12A3):c.1218_1219del (p.Asn406fs)
NM_001126108.2(SLC12A3):c.1232del (p.Pro411fs)
NM_001126108.2(SLC12A3):c.1238G>A (p.Trp413Ter) rs2144711481
NM_001126108.2(SLC12A3):c.1256del (p.Leu419fs)
NM_001126108.2(SLC12A3):c.1258_1262del (p.Ala420fs) rs2144711571
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr) rs781342495
NM_001126108.2(SLC12A3):c.1288T>G (p.Cys430Gly) rs2144711663
NM_001126108.2(SLC12A3):c.1289G>A (p.Cys430Tyr)
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter) rs776210036
NM_001126108.2(SLC12A3):c.1332C>A (p.Tyr444Ter) rs368907927
NM_001126108.2(SLC12A3):c.1332C>G (p.Tyr444Ter)
NM_001126108.2(SLC12A3):c.1390dup (p.Ala464fs)
NM_001126108.2(SLC12A3):c.1424C>G (p.Ser475Cys)
NM_001126108.2(SLC12A3):c.157del (p.Met53fs) rs2144678137
NM_001126108.2(SLC12A3):c.1619A>G (p.Tyr540Cys) rs2144719500
NM_001126108.2(SLC12A3):c.1619_1625del (p.Tyr540fs)
NM_001126108.2(SLC12A3):c.1619del (p.Tyr540fs) rs2055253871
NM_001126108.2(SLC12A3):c.1620T>A (p.Tyr540Ter) rs2144719508
NM_001126108.2(SLC12A3):c.1636A>G (p.Ser546Gly) rs1451284628
NM_001126108.2(SLC12A3):c.1664C>A (p.Ser555Ter)
NM_001126108.2(SLC12A3):c.1670-1G>T
NM_001126108.2(SLC12A3):c.1674G>A (p.Trp558Ter) rs2144723074
NM_001126108.2(SLC12A3):c.1703G>A (p.Trp568Ter)
NM_001126108.2(SLC12A3):c.1742T>A (p.Met581Lys) rs146191537
NM_001126108.2(SLC12A3):c.1743del (p.Met581fs) rs754220610
NM_001126108.2(SLC12A3):c.1758G>A (p.Trp586Ter)
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_001126108.2(SLC12A3):c.1805_1806del (p.Tyr602fs) rs2144723594
NM_001126108.2(SLC12A3):c.1807del (p.Val603fs) rs2144723620
NM_001126108.2(SLC12A3):c.181_190del (p.Ile61fs)
NM_001126108.2(SLC12A3):c.1844C>A (p.Ser615Ter)
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn) rs757490496
NM_001126108.2(SLC12A3):c.185A>G (p.Asp62Gly)
NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly) rs200697179
NM_001126108.2(SLC12A3):c.1924C>T (p.Arg642Cys) rs200697179
NM_001126108.2(SLC12A3):c.1930del (p.Gln644fs) rs779215330
NM_001126108.2(SLC12A3):c.1967del (p.Pro656fs)
NM_001126108.2(SLC12A3):c.1999del (p.Arg667fs)
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs) rs750710315
NM_001126108.2(SLC12A3):c.2129C>A (p.Ser710Ter)
NM_001126108.2(SLC12A3):c.2131del (p.Asp711fs)
NM_001126108.2(SLC12A3):c.2143G>T (p.Glu715Ter) rs766585725
NM_001126108.2(SLC12A3):c.2213T>G (p.Leu738Arg) rs2144733006
NM_001126108.2(SLC12A3):c.2223_2224del (p.Phe742fs)
NM_001126108.2(SLC12A3):c.2239C>T (p.Gln747Ter) rs2055341736
NM_001126108.2(SLC12A3):c.2269del (p.Tyr757fs) rs2144733156
NM_001126108.2(SLC12A3):c.2276del (p.Gly759fs) rs1182653117
NM_001126108.2(SLC12A3):c.2285+1del
NM_001126108.2(SLC12A3):c.2379dup (p.Phe794fs) rs767710222
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs) rs780299444
NM_001126108.2(SLC12A3):c.2419+13C>A
NM_001126108.2(SLC12A3):c.2420T>A (p.Val807Glu) rs759039589
NM_001126108.2(SLC12A3):c.2449C>T (p.Gln817Ter)
NM_001126108.2(SLC12A3):c.2467C>T (p.Gln823Ter)
NM_001126108.2(SLC12A3):c.2504G>A (p.Trp835Ter) rs780844229
NM_001126108.2(SLC12A3):c.2510_2511del (p.Leu836_Phe837insTer) rs2055411543
NM_001126108.2(SLC12A3):c.2521+253C>T rs940322134
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs) rs754378340
NM_001126108.2(SLC12A3):c.2544T>G (p.Tyr848Ter) rs2055435915
NM_001126108.2(SLC12A3):c.2577C>A (p.Cys859Ter)
NM_001126108.2(SLC12A3):c.2595del (p.Gly866fs)
NM_001126108.2(SLC12A3):c.2615_2633dup (p.Ile879fs)
NM_001126108.2(SLC12A3):c.2633+2T>A
NM_001126108.2(SLC12A3):c.2633+2T>G
NM_001126108.2(SLC12A3):c.2679_2691del (p.His894fs)
NM_001126108.2(SLC12A3):c.268C>T (p.His90Tyr) rs1596883431
NM_001126108.2(SLC12A3):c.2720+1G>C rs1347239469
NM_001126108.2(SLC12A3):c.2794G>T (p.Glu932Ter) rs1257717478
NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp)
NM_001126108.2(SLC12A3):c.2811C>A (p.Cys937Ter)
NM_001126108.2(SLC12A3):c.2815del (p.Trp939fs) rs2144767026
NM_001126108.2(SLC12A3):c.2817G>A (p.Trp939Ter) rs760134110
NM_001126108.2(SLC12A3):c.2818A>T (p.Lys940Ter)
NM_001126108.2(SLC12A3):c.283del (p.Gln95fs) rs1555499234
NM_001126108.2(SLC12A3):c.2842A>T (p.Lys948Ter) rs1244866304
NM_001126108.2(SLC12A3):c.2850_2851del (p.Arg950fs) rs746623621
NM_001126108.2(SLC12A3):c.2856+1G>A rs199974259
NM_001126108.2(SLC12A3):c.2856+2T>A rs1473511018
NM_001126108.2(SLC12A3):c.2866C>T (p.Gln956Ter) rs761692493
NM_001126108.2(SLC12A3):c.2874del (p.Arg958fs)
NM_001126108.2(SLC12A3):c.2900C>T (p.Ser967Phe) rs755475785
NM_001126108.2(SLC12A3):c.2902C>T (p.Arg968Ter) rs765609579
NM_001126108.2(SLC12A3):c.2907del (p.Asp969fs) rs1267515400
NM_001126108.2(SLC12A3):c.2924+1G>A rs2144772551
NM_001126108.2(SLC12A3):c.293_296dup (p.His99fs) rs2144682095
NM_001126108.2(SLC12A3):c.329del (p.Ser110fs) rs1294865855
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) rs200219778
NM_001126108.2(SLC12A3):c.342_343dup (p.Asp115fs)
NM_001126108.2(SLC12A3):c.35dup (p.Asp12fs) rs1964322654
NM_001126108.2(SLC12A3):c.378del (p.Ser126fs)
NM_001126108.2(SLC12A3):c.390del (p.Glu131fs)
NM_001126108.2(SLC12A3):c.424dup (p.Val142fs) rs1395319276
NM_001126108.2(SLC12A3):c.433C>T (p.Arg145Cys)
NM_001126108.2(SLC12A3):c.436del (p.Cys146fs)
NM_001126108.2(SLC12A3):c.452G>A (p.Trp151Ter)
NM_001126108.2(SLC12A3):c.466dup (p.Tyr156fs)
NM_001126108.2(SLC12A3):c.46_47del (p.Cys16fs) rs1567423490
NM_001126108.2(SLC12A3):c.486_489del (p.Ile162fs)
NM_001126108.2(SLC12A3):c.486_490delinsA (p.Thr163fs)
NM_001126108.2(SLC12A3):c.506-2A>G
NM_001126108.2(SLC12A3):c.536T>A (p.Val179Asp)
NM_001126108.2(SLC12A3):c.547_548dup (p.Ile184fs) rs770513014
NM_001126108.2(SLC12A3):c.55del (p.Arg19fs) rs2144677775
NM_001126108.2(SLC12A3):c.569C>A (p.Ser190Ter) rs2144688604
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs) rs758683818
NM_001126108.2(SLC12A3):c.587G>T (p.Gly196Val)
NM_001126108.2(SLC12A3):c.612C>G (p.Tyr204Ter)
NM_001126108.2(SLC12A3):c.634G>A (p.Gly212Ser) rs1238543321
NM_001126108.2(SLC12A3):c.671_672del (p.Ala224fs)
NM_001126108.2(SLC12A3):c.723del (p.Val242fs)
NM_001126108.2(SLC12A3):c.73del (p.Leu25fs) rs1555499123
NM_001126108.2(SLC12A3):c.741+2T>G
NM_001126108.2(SLC12A3):c.751del (p.Ala251fs)
NM_001126108.2(SLC12A3):c.817dup (p.Ala273fs) rs2055082369
NM_001126108.2(SLC12A3):c.823_824dup (p.Leu276fs)
NM_001126108.2(SLC12A3):c.841_842insA (p.Trp281Ter)
NM_001126108.2(SLC12A3):c.842G>A (p.Trp281Ter)
NM_001126108.2(SLC12A3):c.853-1G>A
NM_001126108.2(SLC12A3):c.871del (p.Val292fs)
NM_001126108.2(SLC12A3):c.88G>T (p.Glu30Ter) rs751675724
NM_001126108.2(SLC12A3):c.923dup (p.Ser309fs) rs2055109918
NM_001126108.2(SLC12A3):c.933del (p.Asp311fs)
NM_001126108.2(SLC12A3):c.945del (p.Gly316fs)
NM_001126108.2(SLC12A3):c.947G>C (p.Gly316Ala) rs748920885
NM_001126108.2(SLC12A3):c.964+1G>A rs1596895536
NM_001126108.2(SLC12A3):c.964+1G>T rs1596895536
NM_001126108.2(SLC12A3):c.976del (p.Val326fs) rs1215667472

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