ClinVar Miner

List of variants reported as uncertain significance for Bartter disease type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.*1042C>T rs117903818 0.00475
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_000338.3(SLC12A1):c.*153T>C rs77852166 0.00134
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.1560+10G>A rs200934309 0.00082
NM_000338.3(SLC12A1):c.*136G>A rs139328190 0.00073
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.3054G>A (p.Pro1018=) rs201501478 0.00035
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.2098A>C (p.Ile700Leu) rs768048553 0.00013
NM_000338.3(SLC12A1):c.381C>T (p.Asn127=) rs370459859 0.00013
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.1536T>C (p.Leu512=) rs140636270 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.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.2028C>T (p.His676=) rs145784441 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.*40C>T rs763944699 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.-113A>C rs546606004 0.00002
NM_000338.3(SLC12A1):c.1117C>T (p.Arg373Cys) rs1486744140 0.00002
NM_000338.3(SLC12A1):c.1161T>C (p.Phe387=) rs769806467 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.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_000338.3(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.1265C>T (p.Thr422Ile) rs886051212
NM_000338.3(SLC12A1):c.1494G>A (p.Ala498=) rs371242796
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.2155-10T>A rs762650284
NM_000338.3(SLC12A1):c.2272G>C (p.Asp758His) rs1356365433
NM_000338.3(SLC12A1):c.2468A>C (p.Gln823Pro) rs752454522
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.2979G>A (p.Glu993=) rs886051215
NM_000338.3(SLC12A1):c.3103C>A (p.Arg1035Ser) rs746030141
NM_000338.3(SLC12A1):c.3165-5A>T rs767198562
NM_000338.3(SLC12A1):c.355G>A (p.Gly119Ser) rs747096443
NM_000338.3(SLC12A1):c.716T>C (p.Val239Ala) rs2041289926
NM_000338.3(SLC12A1):c.760C>G (p.Pro254Ala) rs367562995

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