ClinVar Miner

List of variants reported as benign for Bartter disease type 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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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.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.415G>A (p.Ala139Thr) rs144128875 0.00249
NM_000338.3(SLC12A1):c.828G>A (p.Val276=) rs3825960 0.00131
NM_000338.3(SLC12A1):c.2210C>T (p.Ala737Val) rs78648980 0.00111

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