ClinVar Miner

List of variants in gene SLC12A3 reported as uncertain significance for Familial hypokalemia-hypomagnesemia

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Gene type:
ClinVar version:
Total variants: 322
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525 0.00433
NM_001126108.2(SLC12A3):c.*2295T>C rs181993451 0.00333
NM_001126108.2(SLC12A3):c.*576C>G rs139828223 0.00271
NM_001126108.2(SLC12A3):c.*2405C>T rs769553356 0.00258
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys) rs146834675 0.00213
NM_001126108.2(SLC12A3):c.1980C>T (p.Asp660=) rs201519016 0.00185
NM_001126108.2(SLC12A3):c.*1532G>A rs531355050 0.00175
NM_001126108.2(SLC12A3):c.1561A>G (p.Ile521Val) rs147046379 0.00175
NM_001126108.2(SLC12A3):c.*960A>T rs545337733 0.00163
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_001126108.2(SLC12A3):c.*2320T>A rs186173400 0.00129
NM_001126108.2(SLC12A3):c.*2030T>C rs540004549 0.00121
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001126108.2(SLC12A3):c.1567+7C>T rs376819753 0.00101
NM_001126108.2(SLC12A3):c.429+9G>A rs375425173 0.00101
NM_001126108.2(SLC12A3):c.1002G>A (p.Arg334=) rs146318329 0.00098
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426 0.00098
NM_001126108.2(SLC12A3):c.*458T>C rs565029718 0.00090
NM_001126108.2(SLC12A3):c.2028C>T (p.His676=) rs35070204 0.00073
NM_001126108.2(SLC12A3):c.966G>A (p.Ala322=) rs149172580 0.00072
NM_001126108.2(SLC12A3):c.723C>T (p.Thr241=) rs149259406 0.00069
NM_001126108.2(SLC12A3):c.*282T>A rs569410134 0.00063
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946 0.00061
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602 0.00048
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001126108.2(SLC12A3):c.1698C>A (p.Asn566Lys) rs757776621 0.00038
NM_001126108.2(SLC12A3):c.2470T>A (p.Ser824Thr) rs146845953 0.00038
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr) rs563131364 0.00031
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876 0.00029
NM_001126108.2(SLC12A3):c.1926-10C>G rs375828467 0.00029
NM_001126108.2(SLC12A3):c.1180+10C>T rs368574873 0.00027
NM_001126108.2(SLC12A3):c.742-6C>T rs370741134 0.00027
NM_001126108.2(SLC12A3):c.408C>T (p.Phe136=) rs142561570 0.00026
NM_001126108.2(SLC12A3):c.1732G>A (p.Val578Met) rs139329616 0.00025
NM_001126108.2(SLC12A3):c.*1512G>A rs142981886 0.00024
NM_001126108.2(SLC12A3):c.2803C>T (p.Arg935Trp) rs56125220 0.00023
NM_001126108.2(SLC12A3):c.*518T>A rs886052167 0.00022
NM_001126108.2(SLC12A3):c.*1985G>A rs535923100 0.00021
NM_001126108.2(SLC12A3):c.*2133T>C rs574216318 0.00021
NM_001126108.2(SLC12A3):c.*2378A>T rs886052176 0.00021
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) rs375542454 0.00020
NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val) rs201130736 0.00019
NM_001126108.2(SLC12A3):c.1833T>C (p.Asn611=) rs368198835 0.00019
NM_001126108.2(SLC12A3):c.1967C>T (p.Pro656Leu) rs140363569 0.00019
NM_001126108.2(SLC12A3):c.323G>A (p.Arg108Gln) rs768537535 0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
NM_001126108.2(SLC12A3):c.*2423C>T rs545437813 0.00016
NM_001126108.2(SLC12A3):c.2160C>T (p.Gly720=) rs147984554 0.00016
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001126108.2(SLC12A3):c.*285T>C rs539777837 0.00011
NM_001126108.2(SLC12A3):c.*735C>T rs749653890 0.00011
NM_001126108.2(SLC12A3):c.-5C>T rs200585631 0.00011
NM_001126108.2(SLC12A3):c.1361C>T (p.Ala454Val) rs368783800 0.00011
NM_001126108.2(SLC12A3):c.1696A>T (p.Asn566Tyr) rs142414514 0.00011
NM_001126108.2(SLC12A3):c.2141C>T (p.Ala714Val) rs369272221 0.00011
NM_001126108.2(SLC12A3):c.2490C>T (p.Thr830=) rs539069621 0.00011
NM_001126108.2(SLC12A3):c.*1920A>G rs760358705 0.00010
NM_001126108.2(SLC12A3):c.161G>A (p.Arg54His) rs373163077 0.00010
NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile) rs373092349 0.00009
NM_001126108.2(SLC12A3):c.*2051C>T rs569306925 0.00008
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His) rs759532318 0.00008
NM_001126108.2(SLC12A3):c.1412C>T (p.Ala471Val) rs201341355 0.00008
NM_001126108.2(SLC12A3):c.1706C>T (p.Ala569Val) rs79351185 0.00008
NM_001126108.2(SLC12A3):c.1742T>C (p.Met581Thr) rs146191537 0.00007
NM_001126108.2(SLC12A3):c.2857-7C>T rs745327566 0.00007
NM_001126108.2(SLC12A3):c.409G>A (p.Gly137Ser) rs143774019 0.00007
NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala) rs146854174 0.00007
NM_001126108.2(SLC12A3):c.429+8G>A rs764783539 0.00007
NM_001126108.2(SLC12A3):c.*1624C>T rs886052171 0.00006
NM_001126108.2(SLC12A3):c.*836G>A rs149793899 0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) rs387907472 0.00006
NM_001126108.2(SLC12A3):c.1774G>A (p.Ala592Thr) rs149644636 0.00006
NM_001126108.2(SLC12A3):c.1797C>T (p.Leu599=) rs777125875 0.00006
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666 0.00006
NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr) rs201318038 0.00006
NM_001126108.2(SLC12A3):c.1249G>A (p.Glu417Lys) rs368455032 0.00005
NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=) rs776210036 0.00005
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) rs370145822 0.00005
NM_001126108.2(SLC12A3):c.853-12C>T rs376908568 0.00005
NM_001126108.2(SLC12A3):c.2153G>A (p.Arg718His) rs748652939 0.00004
NM_001126108.2(SLC12A3):c.2615T>C (p.Met872Thr) rs752124879 0.00004
NM_001126108.2(SLC12A3):c.2801G>A (p.Arg934Gln) rs56259558 0.00004
NM_001126108.2(SLC12A3):c.360C>T (p.Gly120=) rs753383791 0.00004
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met) rs779074538 0.00004
NM_001126108.2(SLC12A3):c.*2084G>A rs577055452 0.00003
NM_001126108.2(SLC12A3):c.*349G>A rs886052162 0.00003
NM_001126108.2(SLC12A3):c.1050G>A (p.Ser350=) rs752171513 0.00003
NM_001126108.2(SLC12A3):c.1568-4G>A rs374303576 0.00003
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) rs774753302 0.00003
NM_001126108.2(SLC12A3):c.2152C>T (p.Arg718Cys) rs777342064 0.00003
NM_001126108.2(SLC12A3):c.2253G>A (p.Pro751=) rs776382586 0.00003
NM_001126108.2(SLC12A3):c.2578A>G (p.Lys860Glu) rs200253241 0.00003
NM_001126108.2(SLC12A3):c.*2358T>C rs886052175 0.00002
NM_001126108.2(SLC12A3):c.*243C>T rs886052161 0.00002
NM_001126108.2(SLC12A3):c.*733A>G rs554943055 0.00002
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) rs781030242 0.00002
NM_001126108.2(SLC12A3):c.1396C>G (p.Leu466Val) rs374545976 0.00002
NM_001126108.2(SLC12A3):c.2924+825C>T rs1403329930 0.00002
NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp) rs772187470 0.00002
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met) rs751725614 0.00002
NM_001126108.2(SLC12A3):c.*1266G>T rs886052169 0.00001
NM_001126108.2(SLC12A3):c.*1323G>C rs886052170 0.00001
NM_001126108.2(SLC12A3):c.*1745T>C rs886052172 0.00001
NM_001126108.2(SLC12A3):c.*1896A>T rs886052173 0.00001
NM_001126108.2(SLC12A3):c.*2318A>C rs886052174 0.00001
NM_001126108.2(SLC12A3):c.*317T>C rs933472377 0.00001
NM_001126108.2(SLC12A3):c.1114C>A (p.Pro372Thr) rs2055189755 0.00001
NM_001126108.2(SLC12A3):c.1248C>T (p.Cys416=) rs766672339 0.00001
NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr) rs137970015 0.00001
NM_001126108.2(SLC12A3):c.1442A>G (p.Gln481Arg) rs1303866177 0.00001
NM_001126108.2(SLC12A3):c.1545C>T (p.Ile515=) rs764801122 0.00001
NM_001126108.2(SLC12A3):c.1606T>C (p.Phe536Leu) rs748650798 0.00001
NM_001126108.2(SLC12A3):c.1761G>C (p.Trp587Cys) rs1316593507 0.00001
NM_001126108.2(SLC12A3):c.1783G>A (p.Val595Met) rs201432183 0.00001
NM_001126108.2(SLC12A3):c.1817A>G (p.Lys606Arg) rs1287765860 0.00001
NM_001126108.2(SLC12A3):c.1911C>T (p.His637=) rs1168785341 0.00001
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser) rs886039754 0.00001
NM_001126108.2(SLC12A3):c.2143G>A (p.Glu715Lys) rs766585725 0.00001
NM_001126108.2(SLC12A3):c.2244G>A (p.Ser748=) rs150633177 0.00001
NM_001126108.2(SLC12A3):c.2336G>A (p.Gly779Glu) rs374352597 0.00001
NM_001126108.2(SLC12A3):c.2413G>A (p.Ala805Thr) rs758304056 0.00001
NM_001126108.2(SLC12A3):c.2516A>T (p.Asp839Val) rs1467657889 0.00001
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948 0.00001
NM_001126108.2(SLC12A3):c.283-2A>C rs377456965 0.00001
NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys) rs199745548 0.00001
NM_001126108.2(SLC12A3):c.430-12C>T rs759198908 0.00001
NM_001126108.2(SLC12A3):c.430-13C>T rs773727087 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_001126108.2(SLC12A3):c.56G>A (p.Arg19His) rs776593495 0.00001
NM_001126108.2(SLC12A3):c.697A>G (p.Met233Val) rs387907469 0.00001
NM_001126108.2(SLC12A3):c.975T>C (p.Phe325=) rs1335054266 0.00001
NM_001126108.2(SLC12A3):c.*1000A>G rs886052168
NM_001126108.2(SLC12A3):c.*1142C>G rs2055729446
NM_001126108.2(SLC12A3):c.*1446G>T rs1054078123
NM_001126108.2(SLC12A3):c.*1456A>G rs766017472
NM_001126108.2(SLC12A3):c.*2104G>C rs534529573
NM_001126108.2(SLC12A3):c.*2329T>C rs2055742120
NM_001126108.2(SLC12A3):c.*2340G>T rs2055742161
NM_001126108.2(SLC12A3):c.*2343T>C rs2055742189
NM_001126108.2(SLC12A3):c.*2412del rs886052177
NM_001126108.2(SLC12A3):c.*495G>A rs886052163
NM_001126108.2(SLC12A3):c.*515_*516insA rs886052166
NM_001126108.2(SLC12A3):c.*524dup rs11347677
NM_001126108.2(SLC12A3):c.*895G>A rs1046715582
NM_001126108.2(SLC12A3):c.1004G>T (p.Gly335Val)
NM_001126108.2(SLC12A3):c.1010A>G (p.Asp337Gly)
NM_001126108.2(SLC12A3):c.1015A>C (p.Thr339Pro)
NM_001126108.2(SLC12A3):c.1017C>T (p.Thr339=) rs1159677951
NM_001126108.2(SLC12A3):c.1080A>G (p.Ile360Met)
NM_001126108.2(SLC12A3):c.1125C>A (p.Thr375=) rs761193208
NM_001126108.2(SLC12A3):c.1148C>A (p.Thr383Asn) rs2144709063
NM_001126108.2(SLC12A3):c.1148C>T (p.Thr383Ile)
NM_001126108.2(SLC12A3):c.1176C>A (p.Thr392=) rs117440321
NM_001126108.2(SLC12A3):c.1178T>A (p.Ile393Asn)
NM_001126108.2(SLC12A3):c.1179T>G (p.Ile393Met)
NM_001126108.2(SLC12A3):c.1196G>A (p.Arg399His) rs13306668
NM_001126108.2(SLC12A3):c.1228A>G (p.Thr410Ala)
NM_001126108.2(SLC12A3):c.1229C>A (p.Thr410Asn) rs886052157
NM_001126108.2(SLC12A3):c.1231C>A (p.Pro411Thr)
NM_001126108.2(SLC12A3):c.1240G>T (p.Gly414Cys)
NM_001126108.2(SLC12A3):c.1280T>G (p.Phe427Cys)
NM_001126108.2(SLC12A3):c.1301A>G (p.His434Arg)
NM_001126108.2(SLC12A3):c.1306_1317del (p.Cys436_Gly439del)
NM_001126108.2(SLC12A3):c.1336-3C>A rs1295643797
NM_001126108.2(SLC12A3):c.1349T>G (p.Val450Gly) rs2144712544
NM_001126108.2(SLC12A3):c.1360G>A (p.Ala454Thr)
NM_001126108.2(SLC12A3):c.1373C>T (p.Thr458Met)
NM_001126108.2(SLC12A3):c.1394C>A (p.Thr465Asn)
NM_001126108.2(SLC12A3):c.1400C>T (p.Ser467Phe)
NM_001126108.2(SLC12A3):c.1412C>A (p.Ala471Asp) rs201341355
NM_001126108.2(SLC12A3):c.1420G>T (p.Val474Phe)
NM_001126108.2(SLC12A3):c.1463T>G (p.Leu488Arg)
NM_001126108.2(SLC12A3):c.1477G>A (p.Gly493Ser)
NM_001126108.2(SLC12A3):c.1508A>G (p.Lys503Arg)
NM_001126108.2(SLC12A3):c.1513C>A (p.Pro505Thr) rs1486448470
NM_001126108.2(SLC12A3):c.1540G>A (p.Ala514Thr)
NM_001126108.2(SLC12A3):c.1566C>T (p.Ile522=)
NM_001126108.2(SLC12A3):c.1568-12G>A
NM_001126108.2(SLC12A3):c.1600A>C (p.Asn534His)
NM_001126108.2(SLC12A3):c.1658C>G (p.Thr553Ser) rs761816117
NM_001126108.2(SLC12A3):c.1695CAA[1] (p.Asn566del)
NM_001126108.2(SLC12A3):c.1706C>A (p.Ala569Glu) rs79351185
NM_001126108.2(SLC12A3):c.1726A>G (p.Ile576Val) rs2055277862
NM_001126108.2(SLC12A3):c.1759T>G (p.Trp587Gly)
NM_001126108.2(SLC12A3):c.1764G>A (p.Ala588=)
NM_001126108.2(SLC12A3):c.1782C>T (p.Gly594=)
NM_001126108.2(SLC12A3):c.1796T>C (p.Leu599Pro)
NM_001126108.2(SLC12A3):c.1805A>G (p.Tyr602Cys)
NM_001126108.2(SLC12A3):c.1826A>C (p.Glu609Ala)
NM_001126108.2(SLC12A3):c.1849C>G (p.Gln617Glu)
NM_001126108.2(SLC12A3):c.1859C>T (p.Ser620Phe)
NM_001126108.2(SLC12A3):c.1876A>G (p.Ser626Gly)
NM_001126108.2(SLC12A3):c.187G>A (p.Val63Met)
NM_001126108.2(SLC12A3):c.1881C>T (p.Tyr627=) rs2055295668
NM_001126108.2(SLC12A3):c.1883C>T (p.Ser628Leu)
NM_001126108.2(SLC12A3):c.1899G>C (p.Glu633Asp) rs1489892274
NM_001126108.2(SLC12A3):c.1914C>G (p.Ile638Met) rs749234287
NM_001126108.2(SLC12A3):c.1932G>C (p.Gln644His)
NM_001126108.2(SLC12A3):c.1956del (p.Asn653fs)
NM_001126108.2(SLC12A3):c.1984G>T (p.Val662Leu)
NM_001126108.2(SLC12A3):c.2000G>A (p.Arg667Gln)
NM_001126108.2(SLC12A3):c.2025C>G (p.Gly675=) rs1232012807
NM_001126108.2(SLC12A3):c.2028C>G (p.His676Gln)
NM_001126108.2(SLC12A3):c.202G>A (p.Glu68Lys)
NM_001126108.2(SLC12A3):c.2032C>T (p.Leu678Phe)
NM_001126108.2(SLC12A3):c.2037C>T (p.Ile679=)
NM_001126108.2(SLC12A3):c.2041C>T (p.Pro681Ser)
NM_001126108.2(SLC12A3):c.2060C>A (p.Pro687His)
NM_001126108.2(SLC12A3):c.2069A>G (p.Gln690Arg)
NM_001126108.2(SLC12A3):c.2069A>T (p.Gln690Leu)
NM_001126108.2(SLC12A3):c.2074A>G (p.Ile692Val)
NM_001126108.2(SLC12A3):c.2081A>G (p.Asn694Ser)
NM_001126108.2(SLC12A3):c.2086C>T (p.His696Tyr)
NM_001126108.2(SLC12A3):c.2092A>G (p.Lys698Glu)
NM_001126108.2(SLC12A3):c.209A>G (p.Tyr70Cys)
NM_001126108.2(SLC12A3):c.2129C>T (p.Ser710Leu) rs546999572
NM_001126108.2(SLC12A3):c.2204C>A (p.Pro735His)
NM_001126108.2(SLC12A3):c.2225T>G (p.Phe742Cys) rs2055341573
NM_001126108.2(SLC12A3):c.2238G>T (p.Trp746Cys)
NM_001126108.2(SLC12A3):c.2243C>T (p.Ser748Leu)
NM_001126108.2(SLC12A3):c.2272A>C (p.Ile758Leu) rs886052158
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr) rs61730207
NM_001126108.2(SLC12A3):c.2273T>G (p.Ile758Ser) rs61730207
NM_001126108.2(SLC12A3):c.2285+18A>T
NM_001126108.2(SLC12A3):c.2303A>C (p.Asn768Thr)
NM_001126108.2(SLC12A3):c.2303A>T (p.Asn768Ile) rs574853861
NM_001126108.2(SLC12A3):c.2348C>T (p.Ser783Phe)
NM_001126108.2(SLC12A3):c.235C>T (p.Pro79Ser)
NM_001126108.2(SLC12A3):c.2367C>G (p.His789Gln)
NM_001126108.2(SLC12A3):c.2377G>A (p.Val793Met)
NM_001126108.2(SLC12A3):c.2378T>C (p.Val793Ala) rs2055395686
NM_001126108.2(SLC12A3):c.2419+10C>T
NM_001126108.2(SLC12A3):c.2419+9C>T rs2055396681
NM_001126108.2(SLC12A3):c.2420-80G>T
NM_001126108.2(SLC12A3):c.2468A>T (p.Gln823Leu)
NM_001126108.2(SLC12A3):c.2521G>A (p.Gly841Ser) rs769412145
NM_001126108.2(SLC12A3):c.2522-19C>G
NM_001126108.2(SLC12A3):c.2537T>A (p.Ile846Asn)
NM_001126108.2(SLC12A3):c.2563A>C (p.Arg855=) rs191194366
NM_001126108.2(SLC12A3):c.2603A>G (p.Gln868Arg) rs2055437395
NM_001126108.2(SLC12A3):c.2609A>G (p.Asn870Ser)
NM_001126108.2(SLC12A3):c.2614A>G (p.Met872Val)
NM_001126108.2(SLC12A3):c.2617G>C (p.Asp873His)
NM_001126108.2(SLC12A3):c.2633+6T>A
NM_001126108.2(SLC12A3):c.2634-9G>A rs1596944843
NM_001126108.2(SLC12A3):c.2652C>G (p.Ser884Arg)
NM_001126108.2(SLC12A3):c.2671C>T (p.His891Tyr)
NM_001126108.2(SLC12A3):c.2677G>T (p.Val893Phe)
NM_001126108.2(SLC12A3):c.2692G>A (p.Asp898Asn)
NM_001126108.2(SLC12A3):c.2710C>T (p.Arg904Trp)
NM_001126108.2(SLC12A3):c.2721-6C>A
NM_001126108.2(SLC12A3):c.2721C>T (p.His907=)
NM_001126108.2(SLC12A3):c.2741T>C (p.Met914Thr)
NM_001126108.2(SLC12A3):c.2746G>T (p.Ala916Ser) rs2144766684
NM_001126108.2(SLC12A3):c.277C>T (p.Leu93Phe)
NM_001126108.2(SLC12A3):c.2794G>A (p.Glu932Lys)
NM_001126108.2(SLC12A3):c.2798T>A (p.Met933Lys) rs777021735
NM_001126108.2(SLC12A3):c.2798T>C (p.Met933Thr)
NM_001126108.2(SLC12A3):c.2804G>T (p.Arg935Leu)
NM_001126108.2(SLC12A3):c.2850A>C (p.Arg950Ser)
NM_001126108.2(SLC12A3):c.2856+11G>A
NM_001126108.2(SLC12A3):c.286G>A (p.Glu96Lys) rs886052156
NM_001126108.2(SLC12A3):c.2923A>G (p.Ile975Val)
NM_001126108.2(SLC12A3):c.2924+6T>C
NM_001126108.2(SLC12A3):c.296A>T (p.His99Leu) rs779559035
NM_001126108.2(SLC12A3):c.301C>T (p.His101Tyr)
NM_001126108.2(SLC12A3):c.308T>A (p.Leu103Gln)
NM_001126108.2(SLC12A3):c.308T>C (p.Leu103Pro) rs747197324
NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp) rs541789117
NM_001126108.2(SLC12A3):c.334G>C (p.Glu112Gln) rs200219778
NM_001126108.2(SLC12A3):c.345T>C (p.Asp115=) rs1596885818
NM_001126108.2(SLC12A3):c.365_366delinsAG (p.Ala122Glu)
NM_001126108.2(SLC12A3):c.384G>T (p.Lys128Asn)
NM_001126108.2(SLC12A3):c.386A>G (p.Asn129Ser)
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) rs769047841
NM_001126108.2(SLC12A3):c.404G>T (p.Arg135Leu)
NM_001126108.2(SLC12A3):c.40A>T (p.Thr14Ser) rs1964322979
NM_001126108.2(SLC12A3):c.430-3C>A rs1964407153
NM_001126108.2(SLC12A3):c.431T>C (p.Ile144Thr)
NM_001126108.2(SLC12A3):c.447C>G (p.Asn149Lys)
NM_001126108.2(SLC12A3):c.450T>G (p.Ile150Met) rs143714318
NM_001126108.2(SLC12A3):c.463C>T (p.Leu155Phe)
NM_001126108.2(SLC12A3):c.496G>A (p.Ala166Thr)
NM_001126108.2(SLC12A3):c.505G>A (p.Val169Ile)
NM_001126108.2(SLC12A3):c.51C>A (p.Ser17Arg)
NM_001126108.2(SLC12A3):c.523A>G (p.Ile175Val)
NM_001126108.2(SLC12A3):c.52_63dup (p.Thr21_Ile22insGlyArgPheThr)
NM_001126108.2(SLC12A3):c.534G>A (p.Ser178=)
NM_001126108.2(SLC12A3):c.540G>A (p.Thr180=)
NM_001126108.2(SLC12A3):c.575T>C (p.Ile192Thr)
NM_001126108.2(SLC12A3):c.578CCA[1] (p.Thr194del)
NM_001126108.2(SLC12A3):c.634G>C (p.Gly212Arg)
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp) rs1437937060
NM_001126108.2(SLC12A3):c.676G>T (p.Ala226Ser)
NM_001126108.2(SLC12A3):c.677C>A (p.Ala226Asp)
NM_001126108.2(SLC12A3):c.685G>A (p.Val229Met)
NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met)
NM_001126108.2(SLC12A3):c.728G>A (p.Arg243Gln)
NM_001126108.2(SLC12A3):c.741+8C>G rs200257610
NM_001126108.2(SLC12A3):c.741+8C>T rs200257610
NM_001126108.2(SLC12A3):c.74T>C (p.Leu25Pro)
NM_001126108.2(SLC12A3):c.781C>T (p.Arg261Cys)
NM_001126108.2(SLC12A3):c.791C>A (p.Ala264Asp) rs1529927
NM_001126108.2(SLC12A3):c.793G>A (p.Val265Met)
NM_001126108.2(SLC12A3):c.795G>A (p.Val265=)
NM_001126108.2(SLC12A3):c.82A>C (p.Ser28Arg)
NM_001126108.2(SLC12A3):c.851A>C (p.Lys284Thr)
NM_001126108.2(SLC12A3):c.852+7_852+9del rs758702370
NM_001126108.2(SLC12A3):c.867C>G (p.Phe289Leu)
NM_001126108.2(SLC12A3):c.872T>A (p.Leu291His)
NM_001126108.2(SLC12A3):c.874G>A (p.Val292Ile)
NM_001126108.2(SLC12A3):c.887C>T (p.Ser296Phe) rs2144694797
NM_001126108.2(SLC12A3):c.89A>G (p.Glu30Gly)
NM_001126108.2(SLC12A3):c.922C>T (p.Pro308Ser)
NM_001126108.2(SLC12A3):c.944A>G (p.Lys315Arg)
NM_001126108.2(SLC12A3):c.961C>G (p.Arg321Gly)
NM_001126108.2(SLC12A3):c.962G>A (p.Arg321Gln)
NM_001126108.2(SLC12A3):c.965-12T>G
NM_001126108.2(SLC12A3):c.967G>A (p.Asp323Asn)
NM_001126108.2(SLC12A3):c.976G>A (p.Val326Ile)

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