ClinVar Miner

List of variants reported as pathogenic for Familial hypokalemia-hypomagnesemia by Genomics England Pilot Project, Genomics England

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.334G>T (p.Glu112Ter) rs200219778
NM_001126108.2(SLC12A3):c.505+5G>A rs751112698

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