ClinVar Miner

List of variants reported for Hypercalcemia, infantile, 1 by Duke University Health System Sequencing Clinic, Duke University Health System

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.1226T>C (p.Leu409Ser) rs6068812 0.00084
NM_000782.5(CYP24A1):c.1219T>A (p.Tyr407Asn) rs140189382 0.00004
NM_000782.5(CYP24A1):c.62del (p.Pro21fs) rs774432244

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