ClinVar Miner

List of variants in gene SLC12A3 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.928G>A (p.Glu310Lys) rs146834675 0.00213
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001126108.2(SLC12A3):c.2470T>A (p.Ser824Thr) rs146845953 0.00038
NM_001126108.2(SLC12A3):c.2363C>T (p.Ala788Val) rs147517227 0.00036
NM_001126108.2(SLC12A3):c.1648G>A (p.Ala550Thr) rs563131364 0.00031
NM_001126108.2(SLC12A3):c.2803C>T (p.Arg935Trp) rs56125220 0.00023
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.1967C>T (p.Pro656Leu) rs140363569 0.00019
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.2920G>A (p.Val974Ile) rs373092349 0.00009
NM_001126108.2(SLC12A3):c.1706C>T (p.Ala569Val) rs79351185 0.00008
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=) rs387907471 0.00008
NM_001126108.2(SLC12A3):c.409G>A (p.Gly137Ser) rs143774019 0.00007
NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met) rs387907472 0.00006
NM_001126108.2(SLC12A3):c.2863C>T (p.Arg955Trp) rs559626481 0.00006
NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr) rs201318038 0.00006
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=) rs200091201 0.00004
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.360C>T (p.Gly120=) rs753383791 0.00004
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His) rs374324018 0.00004
NM_001126108.2(SLC12A3):c.1669+5G>A rs779917194 0.00003
NM_001126108.2(SLC12A3):c.2152C>T (p.Arg718Cys) rs777342064 0.00003
NM_001126108.2(SLC12A3):c.2585G>A (p.Arg862His) rs267607051 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001126108.2(SLC12A3):c.801G>A (p.Ser267=) rs201871800 0.00003
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.1601A>G (p.Asn534Ser) rs780433336 0.00002
NM_001126108.2(SLC12A3):c.1969G>A (p.Ala657Thr) rs763175269 0.00002
NM_001126108.2(SLC12A3):c.2419+16T>G rs988766063 0.00002
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met) rs751725614 0.00002
NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr) rs137970015 0.00001
NM_001126108.2(SLC12A3):c.1565T>A (p.Ile522Asn) rs1254584108 0.00001
NM_001126108.2(SLC12A3):c.1761G>C (p.Trp587Cys) rs1316593507 0.00001
NM_001126108.2(SLC12A3):c.2143G>A (p.Glu715Lys) rs766585725 0.00001
NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys) rs199745548 0.00001
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) rs748547209 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
NC_000016.9:g.(?_56900962)_(56904668_?)dup
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)
NM_001126108.2(SLC12A3):c.1066G>T (p.Ala356Ser)
NM_001126108.2(SLC12A3):c.106G>T (p.Ala36Ser)
NM_001126108.2(SLC12A3):c.1291A>G (p.Thr431Ala)
NM_001126108.2(SLC12A3):c.1336-3C>A rs1295643797
NM_001126108.2(SLC12A3):c.1336-3C>T
NM_001126108.2(SLC12A3):c.1360G>A (p.Ala454Thr)
NM_001126108.2(SLC12A3):c.136A>G (p.Thr46Ala)
NM_001126108.2(SLC12A3):c.1429G>A (p.Ala477Thr) rs387907470
NM_001126108.2(SLC12A3):c.1435G>A (p.Val479Ile)
NM_001126108.2(SLC12A3):c.1477G>A (p.Gly493Ser)
NM_001126108.2(SLC12A3):c.1486G>T (p.Gly496Cys) rs777612082
NM_001126108.2(SLC12A3):c.1520G>A (p.Arg507His)
NM_001126108.2(SLC12A3):c.1547C>T (p.Ala516Val)
NM_001126108.2(SLC12A3):c.1600A>C (p.Asn534His)
NM_001126108.2(SLC12A3):c.1625TCA[1] (p.Ile543del) rs1567434967
NM_001126108.2(SLC12A3):c.1637G>A (p.Ser546Asn) rs2144719566
NM_001126108.2(SLC12A3):c.1658C>G (p.Thr553Ser) rs761816117
NM_001126108.2(SLC12A3):c.1666C>T (p.Pro556Ser)
NM_001126108.2(SLC12A3):c.1672T>C (p.Trp558Arg)
NM_001126108.2(SLC12A3):c.1678_1679delinsGA (p.Pro560Asp)
NM_001126108.2(SLC12A3):c.1723A>G (p.Ile575Val)
NM_001126108.2(SLC12A3):c.1756_1776dup (p.Trp586_Ala592dup) rs2144723364
NM_001126108.2(SLC12A3):c.1795C>T (p.Leu599Phe)
NM_001126108.2(SLC12A3):c.1825+4C>T
NM_001126108.2(SLC12A3):c.1837G>A (p.Gly613Ser)
NM_001126108.2(SLC12A3):c.184G>A (p.Asp62Asn) rs757490496
NM_001126108.2(SLC12A3):c.1899G>C (p.Glu633Asp) rs1489892274
NM_001126108.2(SLC12A3):c.1926-2_1929dup
NM_001126108.2(SLC12A3):c.1967C>G (p.Pro656Arg)
NM_001126108.2(SLC12A3):c.2024G>A (p.Gly675Asp)
NM_001126108.2(SLC12A3):c.2028C>G (p.His676Gln)
NM_001126108.2(SLC12A3):c.2037+4A>G
NM_001126108.2(SLC12A3):c.2037C>T (p.Ile679=)
NM_001126108.2(SLC12A3):c.2038-3C>G rs2144729897
NM_001126108.2(SLC12A3):c.205C>T (p.His69Tyr)
NM_001126108.2(SLC12A3):c.2119G>T (p.Ala707Ser) rs1233683747
NM_001126108.2(SLC12A3):c.2129C>T (p.Ser710Leu) rs546999572
NM_001126108.2(SLC12A3):c.2161G>A (p.Val721Ile)
NM_001126108.2(SLC12A3):c.2252C>T (p.Pro751Leu)
NM_001126108.2(SLC12A3):c.2273T>C (p.Ile758Thr) rs61730207
NM_001126108.2(SLC12A3):c.2286-5T>C
NM_001126108.2(SLC12A3):c.2303A>G (p.Asn768Ser)
NM_001126108.2(SLC12A3):c.2330G>A (p.Arg777Gln)
NM_001126108.2(SLC12A3):c.2367C>G (p.His789Gln)
NM_001126108.2(SLC12A3):c.2368+3G>T
NM_001126108.2(SLC12A3):c.2374C>T (p.Pro792Ser)
NM_001126108.2(SLC12A3):c.2377G>A (p.Val793Met)
NM_001126108.2(SLC12A3):c.2453_2479del (p.Ala818_Gln826del)
NM_001126108.2(SLC12A3):c.2495A>G (p.Asp832Gly) rs1555501437
NM_001126108.2(SLC12A3):c.2522-19C>G
NM_001126108.2(SLC12A3):c.2530C>T (p.Leu844Phe)
NM_001126108.2(SLC12A3):c.2593G>A (p.Val865Ile)
NM_001126108.2(SLC12A3):c.2614A>G (p.Met872Val)
NM_001126108.2(SLC12A3):c.2634-12T>A
NM_001126108.2(SLC12A3):c.2710C>T (p.Arg904Trp)
NM_001126108.2(SLC12A3):c.2738A>G (p.Asp913Gly)
NM_001126108.2(SLC12A3):c.2756G>A (p.Arg919His)
NM_001126108.2(SLC12A3):c.2765A>C (p.Asp922Ala)
NM_001126108.2(SLC12A3):c.2798T>C (p.Met933Thr)
NM_001126108.2(SLC12A3):c.2830GAG[1] (p.Glu945del)
NM_001126108.2(SLC12A3):c.2850A>C (p.Arg950Ser)
NM_001126108.2(SLC12A3):c.2866C>G (p.Gln956Glu)
NM_001126108.2(SLC12A3):c.286G>C (p.Glu96Gln) rs886052156
NM_001126108.2(SLC12A3):c.296A>T (p.His99Leu) rs779559035
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.37G>A (p.Ala13Thr)
NM_001126108.2(SLC12A3):c.40A>T (p.Thr14Ser) rs1964322979
NM_001126108.2(SLC12A3):c.505+3G>T
NM_001126108.2(SLC12A3):c.505G>A (p.Val169Ile)
NM_001126108.2(SLC12A3):c.51C>A (p.Ser17Arg)
NM_001126108.2(SLC12A3):c.5C>G (p.Ala2Gly) rs1365506259
NM_001126108.2(SLC12A3):c.602G>T (p.Gly201Val) rs2144689378
NM_001126108.2(SLC12A3):c.670G>A (p.Ala224Thr)
NM_001126108.2(SLC12A3):c.704C>T (p.Thr235Met)
NM_001126108.2(SLC12A3):c.741+4A>G
NM_001126108.2(SLC12A3):c.744G>T (p.Glu248Asp)
NM_001126108.2(SLC12A3):c.788T>C (p.Ile263Thr)
NM_001126108.2(SLC12A3):c.793G>A (p.Val265Met)
NM_001126108.2(SLC12A3):c.836T>G (p.Met279Arg)
NM_001126108.2(SLC12A3):c.861G>T (p.Val287=) rs387907473
NM_001126108.2(SLC12A3):c.863T>G (p.Leu288Arg)
NM_001126108.2(SLC12A3):c.931G>A (p.Asp311Asn)
NM_001126108.2(SLC12A3):c.964G>T (p.Ala322Ser)

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