ClinVar Miner

List of variants studied for Familial hypokalemia-hypomagnesemia by Centogene AG - the Rare Disease Company

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195 0.00041
NM_001126108.2(SLC12A3):c.1670-191C>T rs374182921 0.00003
NM_001126108.2(SLC12A3):c.2721-1G>A rs761242621 0.00002

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