ClinVar Miner

List of variants studied for Bartter disease type 1

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 113
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HGVS dbSNP
NM_000338.2(SLC12A1):c.1522G>A rs765347751
NM_000338.2(SLC12A1):c.[1522G>A];[735C>G]
NM_000338.3(SLC12A1):c.*101C>A rs55707440
NM_000338.3(SLC12A1):c.*1042C>T
NM_000338.3(SLC12A1):c.*1084A>T rs12438818
NM_000338.3(SLC12A1):c.*110G>T rs8025278
NM_000338.3(SLC12A1):c.*1179A>T rs886051218
NM_000338.3(SLC12A1):c.*126T>C rs7165179
NM_000338.3(SLC12A1):c.*12T>C rs376778228
NM_000338.3(SLC12A1):c.*136G>A rs139328190
NM_000338.3(SLC12A1):c.*153T>C rs77852166
NM_000338.3(SLC12A1):c.*158C>T rs7163846
NM_000338.3(SLC12A1):c.*216A>C
NM_000338.3(SLC12A1):c.*284A>G rs12902028
NM_000338.3(SLC12A1):c.*300T>C rs78562329
NM_000338.3(SLC12A1):c.*40C>T
NM_000338.3(SLC12A1):c.*436C>G
NM_000338.3(SLC12A1):c.*496C>T
NM_000338.3(SLC12A1):c.*50A>C rs753708701
NM_000338.3(SLC12A1):c.*590T>C rs886051216
NM_000338.3(SLC12A1):c.*593A>G
NM_000338.3(SLC12A1):c.*629G>A
NM_000338.3(SLC12A1):c.*862A>G
NM_000338.3(SLC12A1):c.*921T>C rs886051217
NM_000338.3(SLC12A1):c.-100C>T rs886051211
NM_000338.3(SLC12A1):c.-113A>C rs546606004
NM_000338.3(SLC12A1):c.-136A>G rs35787656
NM_000338.3(SLC12A1):c.-68G>T
NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys)
NM_000338.3(SLC12A1):c.1137del (p.Phe380fs) rs1057520300
NM_000338.3(SLC12A1):c.1161T>C (p.Phe387=) rs769806467
NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) rs779588655
NM_000338.3(SLC12A1):c.1216-13T>A
NM_000338.3(SLC12A1):c.1265C>T (p.Thr422Ile) rs886051212
NM_000338.3(SLC12A1):c.1300+12G>A
NM_000338.3(SLC12A1):c.1494G>A (p.Ala498=)
NM_000338.3(SLC12A1):c.1536T>C (p.Leu512=)
NM_000338.3(SLC12A1):c.1560+10G>A rs200934309
NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=) rs6493311
NM_000338.3(SLC12A1):c.1686G>A (p.Ala562=)
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) rs1057520304
NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile) rs139589325
NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter) rs137853159
NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp) rs1057520301
NM_000338.3(SLC12A1):c.1903G>A (p.Glu635Lys)
NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe) rs563102186
NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn) rs137853157
NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=) rs200417237
NM_000338.3(SLC12A1):c.2028C>T (p.His676=) rs145784441
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) rs35783293
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr) rs143141941
NM_000338.3(SLC12A1):c.2095del (p.Asp699fs) rs1057519608
NM_000338.3(SLC12A1):c.2098A>C (p.Ile700Leu) rs768048553
NM_000338.3(SLC12A1):c.2106C>T (p.His702=) rs761397379
NM_000338.3(SLC12A1):c.2155-10T>A
NM_000338.3(SLC12A1):c.2160G>A (p.Pro720=) rs34820738
NM_000338.3(SLC12A1):c.2195T>A (p.Met732Lys)
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val) rs141858745
NM_000338.3(SLC12A1):c.2199G>A (p.Ala733=) rs150609105
NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr)
NM_000338.3(SLC12A1):c.2210C>T (p.Ala737Val) rs78648980
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) rs137893258
NM_000338.3(SLC12A1):c.2272G>C (p.Asp758His)
NM_000338.3(SLC12A1):c.2296-6G>T rs34047900
NM_000338.3(SLC12A1):c.2405A>G (p.Asp802Gly)
NM_000338.3(SLC12A1):c.2435T>C (p.Ile812Thr) rs201516084
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg) rs201516084
NM_000338.3(SLC12A1):c.2468A>C (p.Gln823Pro)
NM_000338.3(SLC12A1):c.2521T>C (p.Leu841=) rs147684303
NM_000338.3(SLC12A1):c.2528C>T (p.Ala843Val)
NM_000338.3(SLC12A1):c.2546A>G (p.Glu849Gly)
NM_000338.3(SLC12A1):c.2607T>C (p.Ile869=) rs771458863
NM_000338.3(SLC12A1):c.2630-7G>A rs34063058
NM_000338.3(SLC12A1):c.2676C>T (p.Asn892=)
NM_000338.3(SLC12A1):c.2781C>G (p.Pro927=) rs886051213
NM_000338.3(SLC12A1):c.2785A>G (p.Ile929Val)
NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=) rs145464740
NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs) rs1057520302
NM_000338.3(SLC12A1):c.2825G>C (p.Arg942Thr)
NM_000338.3(SLC12A1):c.2834_2873+12del rs1566857461
NM_000338.3(SLC12A1):c.2854A>C (p.Ile952Leu) rs886051214
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311
NM_000338.3(SLC12A1):c.2919C>G (p.Ile973Met)
NM_000338.3(SLC12A1):c.2929G>A (p.Gly977Ser) rs372350814
NM_000338.3(SLC12A1):c.2943T>C (p.Ile981=) rs139832082
NM_000338.3(SLC12A1):c.2979G>A (p.Glu993=) rs886051215
NM_000338.3(SLC12A1):c.3054G>A (p.Pro1018=) rs201501478
NM_000338.3(SLC12A1):c.3096+7A>T rs200662267
NM_000338.3(SLC12A1):c.3103C>A (p.Arg1035Ser)
NM_000338.3(SLC12A1):c.3113G>A (p.Arg1038Gln) rs141652885
NM_000338.3(SLC12A1):c.3165-5A>T
NM_000338.3(SLC12A1):c.3206T>G (p.Leu1069Trp)
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316
NM_000338.3(SLC12A1):c.355G>A (p.Gly119Ser) rs747096443
NM_000338.3(SLC12A1):c.381C>T (p.Asn127=) rs370459859
NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr) rs144128875
NM_000338.3(SLC12A1):c.434C>A (p.Thr145Asn)
NM_000338.3(SLC12A1):c.445G>A (p.Ala149Thr) rs116848967
NM_000338.3(SLC12A1):c.462C>T (p.Asn154=)
NM_000338.3(SLC12A1):c.463G>A (p.Gly155Ser)
NM_000338.3(SLC12A1):c.497A>G (p.Asn166Ser) rs142360465
NM_000338.3(SLC12A1):c.59G>A (p.Arg20His)
NM_000338.3(SLC12A1):c.695C>T (p.Ala232Val) rs188295259
NM_000338.3(SLC12A1):c.716T>C (p.Val239Ala)
NM_000338.3(SLC12A1):c.724+15A>T
NM_000338.3(SLC12A1):c.724+4A>G rs774515747
NM_000338.3(SLC12A1):c.724+547C>T rs377680472
NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala)
NM_000338.3(SLC12A1):c.807A>G (p.Ala269=)
NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe) rs137853158
NM_000338.3(SLC12A1):c.828G>A (p.Val276=) rs3825960
NM_000338.3(SLC12A1):c.843G>C (p.Glu281Asp) rs886039870
NM_001184832.2(SLC12A1):c.2494_2495GA[2] (p.Arg833fs) rs1057520303

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