ClinVar Miner

List of variants studied for Familial hypokalemia-hypomagnesemia by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr) rs199849117 0.00008
NM_001126108.2(SLC12A3):c.1180+1G>T rs749098014 0.00001
NM_001126108.2(SLC12A3):c.237_238dup (p.Arg80fs) rs780299444

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