ClinVar Miner

List of variants in gene CASR reported as pathogenic for Neonatal severe hyperparathyroidism

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Total variants: 11
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HGVS dbSNP
CASR, ALU INS, CODON 877
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) rs104893705
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu) rs104893700
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) rs869320729
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689
NM_000388.4(CASR):c.280G>T (p.Gly94Ter) rs104893709
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) rs28936684
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259

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