ClinVar Miner

List of variants studied for Bartter disease type 1 by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.2282G>A (p.Arg761Gln) rs144177117 0.00011
NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln) rs780619649 0.00001
NM_000338.3(SLC12A1):c.1300+5G>A rs894215559
NM_000338.3(SLC12A1):c.1834G>A (p.Gly612Arg) rs2041650191
NM_000338.3(SLC12A1):c.2066G>A (p.Gly689Glu)
NM_000338.3(SLC12A1):c.2810A>G (p.Lys937Arg)
NM_000338.3(SLC12A1):c.760C>T (p.Pro254Ser) rs367562995

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