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: 16
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HGVS dbSNP
NM_000338.3(SLC12A1):c.*101C>A rs55707440
NM_000338.3(SLC12A1):c.*1084A>T rs12438818
NM_000338.3(SLC12A1):c.*110G>T rs8025278
NM_000338.3(SLC12A1):c.*126T>C rs7165179
NM_000338.3(SLC12A1):c.*158C>T rs7163846
NM_000338.3(SLC12A1):c.*284A>G rs12902028
NM_000338.3(SLC12A1):c.*300T>C rs78562329
NM_000338.3(SLC12A1):c.-136A>G rs35787656
NM_000338.3(SLC12A1):c.1614T>C (p.Tyr538=) rs6493311
NM_000338.3(SLC12A1):c.2198C>T (p.Ala733Val) rs141858745
NM_000338.3(SLC12A1):c.2210C>T (p.Ala737Val) rs78648980
NM_000338.3(SLC12A1):c.2296-6G>T rs34047900
NM_000338.3(SLC12A1):c.2630-7G>A rs34063058
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311
NM_000338.3(SLC12A1):c.415G>A (p.Ala139Thr) rs144128875
NM_000338.3(SLC12A1):c.828G>A (p.Val276=) rs3825960

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