ClinVar Miner

List of variants reported as uncertain significance for rickets by Intergen, Intergen Genetics and Rare Diseases Diagnosis Center

Included ClinVar conditions (21):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000376.3(VDR):c.89G>A (p.Arg30Gln)	rs373875011	0.00006
NM_000785.4(CYP27B1):c.164A>T (p.Lys55Met)	rs762682469	0.00003

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