ClinVar Miner

List of variants in gene CASR reported as likely pathogenic for Hypocalciuric hypercalcemia, familial, type 1; Hypocalcemia, autosomal dominant 1

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Total variants: 6
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HGVS dbSNP
NM_000388.3(CASR):c.2038C>T (p.Arg680Cys) rs767363250
NM_000388.3(CASR):c.2244dup (p.Ser749Leufs) rs1553769059
NM_000388.3(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.3(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.3(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.3(CASR):c.532A>G (p.Asn178Asp) rs1060502855

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