ClinVar Miner

List of variants reported as likely benign for Hypercalcemia, infantile, 1 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln) rs35051736 0.00377
NM_000782.5(CYP24A1):c.604G>C (p.Asp202His) rs114579367 0.00192
NM_000782.5(CYP24A1):c.150C>T (p.Gly50=) rs566481776 0.00009
NM_000782.5(CYP24A1):c.1020C>T (p.Tyr340=) rs77764129 0.00004

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