ClinVar Miner

List of variants reported for Bartter disease type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.1300+12G>A rs147511178 0.00364
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val) rs141858745 0.00348
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) rs35783293 0.00248
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=) rs34820738 0.00148
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149 0.00136
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) rs137893258 0.00103
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709 0.00048
NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser) rs142360465 0.00021
NM_000338.3(SLC12A1):c.2654C>T (p.Ser885Leu) rs180847164 0.00019
NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys) rs370908136 0.00014
NM_000338.3(SLC12A1):c.2281C>A (p.Arg761=) rs199877869 0.00013
NM_000338.3(SLC12A1):c.2223G>A (p.Lys741=) rs141643222 0.00012
NM_000338.3(SLC12A1):c.1653T>G (p.Thr551=) rs142886182 0.00011
NM_000338.3(SLC12A1):c.2282G>A (p.Arg761Gln) rs144177117 0.00011
NM_000338.3(SLC12A1):c.3053C>T (p.Pro1018Leu) rs772354744 0.00011
NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln) rs141652885 0.00007
NM_000338.3(SLC12A1):c.1216-13T>A rs200223149 0.00006
NM_000338.3(SLC12A1):c.1981G>A (p.Val661Met) rs191148564 0.00006
NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly) rs369637809 0.00006
NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr) rs201516084 0.00006
NM_000338.3(SLC12A1):c.1561-8T>G rs778539276 0.00004
NM_000338.3(SLC12A1):c.1786+18C>T rs750119347 0.00004
NM_000338.3(SLC12A1):c.2653T>C (p.Ser885Pro) rs375157909 0.00004
NM_000338.3(SLC12A1):c.394C>T (p.Leu132Phe) rs752324675 0.00004
NM_000338.3(SLC12A1):c.463G>A (p.Gly155Ser) rs145003411 0.00004
NM_000338.3(SLC12A1):c.807A>G (p.Ala269=) rs376830687 0.00004
NM_000338.3(SLC12A1):c.118A>G (p.Thr40Ala) rs772144467 0.00003
NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=) rs199833808 0.00003
NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile) rs139589325 0.00003
NM_000338.3(SLC12A1):c.513A>C (p.Gln171His) rs942607677 0.00003
NM_000338.3(SLC12A1):c.816T>C (p.Val272=) rs369827965 0.00003
NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys) rs1486744140 0.00002
NM_000338.3(SLC12A1):c.2507A>T (p.Gln836Leu) rs781250971 0.00002
NM_000338.3(SLC12A1):c.3164+1G>A rs756057922 0.00002
NM_000338.3(SLC12A1):c.421-15A>G rs148912103 0.00002
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn) rs528775721 0.00001
NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly) rs774989723 0.00001
NM_000338.3(SLC12A1):c.2852G>A (p.Arg951His) rs537641866 0.00001
NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp) rs1473447476 0.00001
NM_000338.3(SLC12A1):c.1355G>C (p.Gly452Ala) rs1036163503
NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe) rs563102186
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr) rs143141941
NM_000338.3(SLC12A1):c.2206C>A (p.Gln736Lys) rs1175659978
NM_000338.3(SLC12A1):c.223C>T (p.Gln75Ter) rs1048935147
NM_000338.3(SLC12A1):c.2242del (p.Tyr748fs) rs758961147
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg) rs201516084
NM_000338.3(SLC12A1):c.2573G>T (p.Arg858Leu) rs140747686
NM_000338.3(SLC12A1):c.2953A>G (p.Lys985Glu) rs1254425688
NM_000338.3(SLC12A1):c.3256C>A (p.Leu1086Ile) rs770328592
NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter) rs773855120
NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala) rs367562995

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