ClinVar Miner

List of variants in gene SLC12A1 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys) rs370908136 0.00014
NM_000338.3(SLC12A1):c.513A>C (p.Gln171His) rs942607677 0.00003
NM_000338.3(SLC12A1):c.3160G>A (p.Val1054Ile) rs767407815 0.00001
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr) rs143141941
NM_000338.3(SLC12A1):c.2338G>C (p.Gly780Arg) rs1566849200
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg) rs201516084
NM_000338.3(SLC12A1):c.2770C>T (p.Leu924Phe) rs1597456429

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