ClinVar Miner

List of variants in gene SLC12A1 reported as uncertain significance for Bartter disease type 1

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP
NM_000338.3(SLC12A1):c.*1042C>T
NM_000338.3(SLC12A1):c.*1179A>T rs886051218
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.*216A>C
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.*921T>C rs886051217
NM_000338.3(SLC12A1):c.-100C>T rs886051211
NM_000338.3(SLC12A1):c.-113A>C rs546606004
NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys)
NM_000338.3(SLC12A1):c.1161T>C (p.Phe387=)
NM_000338.3(SLC12A1):c.1265C>T (p.Thr422Ile) rs886051212
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.1686G>A (p.Ala562=)
NM_000338.3(SLC12A1):c.1855G>A (p.Val619Ile) rs139589325
NM_000338.3(SLC12A1):c.1903G>A (p.Glu635Lys)
NM_000338.3(SLC12A1):c.1912C>T (p.Leu638Phe) rs563102186
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.206G>A (p.Cys69Tyr) rs143141941
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.2195T>A (p.Met732Lys)
NM_000338.3(SLC12A1):c.2209G>A (p.Ala737Thr)
NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val) rs137893258
NM_000338.3(SLC12A1):c.2272G>C (p.Asp758His)
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.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.2825G>C (p.Arg942Thr)
NM_000338.3(SLC12A1):c.2854A>C (p.Ile952Leu) rs886051214
NM_000338.3(SLC12A1):c.2919C>G (p.Ile973Met)
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=)
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.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.716T>C (p.Val239Ala)
NM_000338.3(SLC12A1):c.724+15A>T
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=)

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