ClinVar Miner

List of variants reported as pathogenic for vitamin D-dependent rickets by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (7):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter)	rs121909792
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	rs780950819
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu)	rs1057520815

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