ClinVar Miner

List of variants studied for Bartter disease type 1

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311 0.99732
NM_000338.3(SLC12A1):c.2296-21A>G rs1484551 0.99047
NM_000338.3(SLC12A1):c.*1084A>T rs12438818 0.90572
NM_000338.3(SLC12A1):c.*110G>T rs8025278 0.82831
NM_000338.3(SLC12A1):c.*284A>G rs12902028 0.82288
NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=) rs6493311 0.37763
NM_000338.3(SLC12A1):c.-136A>G rs35787656 0.04798
NM_000338.3(SLC12A1):c.*126T>C rs7165179 0.03546
NM_000338.3(SLC12A1):c.*101C>A rs55707440 0.02084
NM_000338.3(SLC12A1):c.*300T>C rs78562329 0.01932
NM_000338.3(SLC12A1):c.*158C>T rs7163846 0.01443
NM_000338.3(SLC12A1):c.2630-7G>A rs34063058 0.00623
NM_000338.3(SLC12A1):c.*1042C>T rs117903818 0.00475
NM_000338.3(SLC12A1):c.2296-6G>T rs34047900 0.00402
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.347G>A (p.Arg116His) rs34819316 0.00334
NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr) rs144128875 0.00249
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.2199G>A (p.Ala733=) rs150609105 0.00148
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149 0.00136
NM_000338.3(SLC12A1):c.*153T>C rs77852166 0.00134
NM_000338.3(SLC12A1):c.828G>A (p.Val276=) rs3825960 0.00131
NM_000338.3(SLC12A1):c.2210C>T (p.Ala737Val) rs78648980 0.00111
NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=) rs145464740 0.00111
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) rs137893258 0.00103
NM_000338.3(SLC12A1):c.2943T>C (p.Ile981=) rs139832082 0.00103
NM_000338.3(SLC12A1):c.695C>T (p.Ala232Val) rs188295259 0.00100
NM_000338.3(SLC12A1):c.1560+10G>A rs200934309 0.00082
NM_000338.3(SLC12A1):c.*136G>A rs139328190 0.00073
NM_000338.3(SLC12A1):c.59G>A (p.Arg20His) rs34661166 0.00070
NM_000338.3(SLC12A1):c.*12T>C rs376778228 0.00067
NM_000338.3(SLC12A1):c.3096+7A>T rs200662267 0.00062
NM_000338.3(SLC12A1):c.*862A>G rs565665101 0.00049
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709 0.00048
NM_000338.3(SLC12A1):c.3054G>A (p.Pro1018=) rs201501478 0.00035
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter) rs137853159 0.00033
NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr) rs138382420 0.00026
NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser) rs142360465 0.00021
NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=) rs200417237 0.00019
NM_000338.3(SLC12A1):c.2654C>T (p.Ser885Leu) rs180847164 0.00019
NM_000338.3(SLC12A1):c.724+547C>T rs377680472 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.381C>T (p.Asn127=) rs370459859 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.*436C>G rs894483558 0.00010
NM_000338.3(SLC12A1):c.724+15A>T rs762041441 0.00010
NM_000338.3(SLC12A1):c.462C>T (p.Asn154=) rs765175595 0.00009
NM_000338.3(SLC12A1):c.2106C>T (p.His702=) rs761397379 0.00007
NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln) rs141652885 0.00007
NM_000338.3(SLC12A1):c.*50A>C rs753708701 0.00006
NM_000338.3(SLC12A1):c.1216-13T>A rs200223149 0.00006
NM_000338.3(SLC12A1):c.1536T>C (p.Leu512=) rs140636270 0.00006
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn) rs137853157 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.2825G>C (p.Arg942Thr) rs772170109 0.00006
NM_000338.3(SLC12A1):c.2929G>A (p.Gly977Ser) rs372350814 0.00006
NM_000338.3(SLC12A1):c.445G>A (p.Ala149Thr) rs116848967 0.00006
NM_000338.3(SLC12A1):c.-100C>T rs886051211 0.00005
NM_000338.3(SLC12A1):c.2676C>T (p.Asn892=) rs373172332 0.00005
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.2028C>T (p.His676=) rs145784441 0.00004
NM_000338.3(SLC12A1):c.2098A>C (p.Ile700Leu) rs768048553 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.905G>A (p.Arg302Gln) rs747229048 0.00004
NM_000338.3(SLC12A1):c.*40C>T rs763944699 0.00003
NM_000338.3(SLC12A1):c.118A>G (p.Thr40Ala) rs772144467 0.00003
NM_000338.3(SLC12A1):c.1432G>A (p.Gly478Arg) rs758166864 0.00003
NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) rs765347751 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.-113A>C rs546606004 0.00002
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.-68G>T rs146990469 0.00001
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly) rs1567314296 0.00001
NM_000338.3(SLC12A1):c.1161T>C (p.Phe387=) rs769806467 0.00001
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_000338.3(SLC12A1):c.1652C>T (p.Thr551Ile) rs1186967754 0.00001
NM_000338.3(SLC12A1):c.2042+2T>A rs1400209959 0.00001
NM_000338.3(SLC12A1):c.2095G>A (p.Asp699Asn) rs528775721 0.00001
NM_000338.3(SLC12A1):c.2195T>A (p.Met732Lys) rs560432597 0.00001
NM_000338.3(SLC12A1):c.2521T>C (p.Leu841=) rs147684303 0.00001
NM_000338.3(SLC12A1):c.2528C>T (p.Ala843Val) rs749753790 0.00001
NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly) rs774989723 0.00001
NM_000338.3(SLC12A1):c.2607T>C (p.Ile869=) rs771458863 0.00001
NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs) rs1057520302 0.00001
NM_000338.3(SLC12A1):c.2852G>A (p.Arg951His) rs537641866 0.00001
NM_000338.3(SLC12A1):c.2854A>C (p.Ile952Leu) rs886051214 0.00001
NM_000338.3(SLC12A1):c.2919C>G (p.Ile973Met) rs1300706094 0.00001
NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp) rs1473447476 0.00001
NM_000338.3(SLC12A1):c.434C>A (p.Thr145Asn) rs2041199987 0.00001
NM_000338.2(SLC12A1):c.[1522G>A];[735C>G]
NM_000338.3(SLC12A1):c.*1179A>T rs886051218
NM_000338.3(SLC12A1):c.*216A>C rs2042253972
NM_000338.3(SLC12A1):c.*496C>T rs2042256118
NM_000338.3(SLC12A1):c.*590T>C rs886051216
NM_000338.3(SLC12A1):c.*593A>G rs2042256892
NM_000338.3(SLC12A1):c.*629G>A rs2042257197
NM_000338.3(SLC12A1):c.*921T>C rs886051217
NM_000338.3(SLC12A1):c.1137del (p.Phe380fs) rs1057520300
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_000338.3(SLC12A1):c.1166C>T (p.Pro389Leu)
NM_000338.3(SLC12A1):c.1265C>T (p.Thr422Ile) rs886051212
NM_000338.3(SLC12A1):c.1300+5G>A rs894215559
NM_000338.3(SLC12A1):c.1307G>A (p.Cys436Tyr)
NM_000338.3(SLC12A1):c.1355G>C (p.Gly452Ala) rs1036163503
NM_000338.3(SLC12A1):c.1468T>G (p.Ser490Ala) rs2041588755
NM_000338.3(SLC12A1):c.1494G>A (p.Ala498=) rs371242796
NM_000338.3(SLC12A1):c.1511C>T (p.Thr504Ile)
NM_000338.3(SLC12A1):c.1610G>C (p.Gly537Ala)
NM_000338.3(SLC12A1):c.1679T>C (p.Leu560Pro) rs1370120380
NM_000338.3(SLC12A1):c.1684+1G>A
NM_000338.3(SLC12A1):c.1757G>A (p.Cys586Tyr)
NM_000338.3(SLC12A1):c.1786+2del
NM_000338.3(SLC12A1):c.1832_1833del (p.Phe611fs) rs1057520304
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) rs1057520304
NM_000338.3(SLC12A1):c.1834G>A (p.Gly612Arg) rs2041650191
NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp) rs1057520301
NM_000338.3(SLC12A1):c.1903G>A (p.Glu635Lys) rs2041651233
NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe) rs563102186
NM_000338.3(SLC12A1):c.1927del (p.Thr643fs) rs2141064916
NM_000338.3(SLC12A1):c.1966C>T (p.Gln656Ter)
NM_000338.3(SLC12A1):c.2066G>A (p.Gly689Glu)
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr) rs143141941
NM_000338.3(SLC12A1):c.2095del (p.Asp699fs) rs1057519608
NM_000338.3(SLC12A1):c.2155-10T>A rs762650284
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.2272G>C (p.Asp758His) rs1356365433
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg) rs201516084
NM_000338.3(SLC12A1):c.2456T>C (p.Phe819Ser)
NM_000338.3(SLC12A1):c.2468A>C (p.Gln823Pro) rs752454522
NM_000338.3(SLC12A1):c.2498_2499del (p.Arg833fs) rs1057520303
NM_000338.3(SLC12A1):c.2573G>T (p.Arg858Leu) rs140747686
NM_000338.3(SLC12A1):c.2781C>G (p.Pro927=) rs886051213
NM_000338.3(SLC12A1):c.2785A>G (p.Ile929Val) rs2042082680
NM_000338.3(SLC12A1):c.2805dup (p.Trp936fs) rs776749406
NM_000338.3(SLC12A1):c.2810A>G (p.Lys937Arg)
NM_000338.3(SLC12A1):c.2834_2873+12del rs1566857461
NM_000338.3(SLC12A1):c.2953A>G (p.Lys985Glu) rs1254425688
NM_000338.3(SLC12A1):c.2979G>A (p.Glu993=) rs886051215
NM_000338.3(SLC12A1):c.3003T>A (p.His1001Gln)
NM_000338.3(SLC12A1):c.3103C>A (p.Arg1035Ser) rs746030141
NM_000338.3(SLC12A1):c.3165-5A>T rs767198562
NM_000338.3(SLC12A1):c.3256C>A (p.Leu1086Ile) rs770328592
NM_000338.3(SLC12A1):c.355G>A (p.Gly119Ser) rs747096443
NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter) rs773855120
NM_000338.3(SLC12A1):c.572T>A (p.Ile191Asn)
NM_000338.3(SLC12A1):c.595C>G (p.Arg199Gly)
NM_000338.3(SLC12A1):c.716T>C (p.Val239Ala) rs2041289926
NM_000338.3(SLC12A1):c.724+4A>G rs774515747
NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala) rs367562995
NM_000338.3(SLC12A1):c.760C>T (p.Pro254Ser) rs367562995
NM_000338.3(SLC12A1):c.781G>A (p.Gly261Ser)
NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe) rs137853158
NM_000338.3(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870
NM_000338.3(SLC12A1):c.975+1G>A
NM_000338.3(SLC12A1):c.[1154_1157dup];[2770C>T]

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