ClinVar Miner

List of variants in gene CASR reported as uncertain significance for Inborn genetic diseases

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.1249T>A (p.Ser417Thr)
NM_000388.4(CASR):c.1456G>A (p.Val486Met) rs201829972
NM_000388.4(CASR):c.2317C>G (p.Leu773Val)
NM_000388.4(CASR):c.2452T>C (p.Trp818Arg)
NM_000388.4(CASR):c.2990C>G (p.Ser997Cys) rs1244383237
NM_000388.4(CASR):c.406C>G (p.Pro136Ala)

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