ClinVar Miner

List of variants reported as pathogenic for Hypocalcemia, autosomal dominant 1, with bartter syndrome by OMIM

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Total variants: 4
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NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) rs104893706
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.393C>G (p.Cys131Trp) rs121909267
NM_000388.4(CASR):c.85A>G (p.Lys29Glu) rs397514729

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