ClinVar Miner

List of variants reported as likely pathogenic for rickets by Illumina Laboratory Services, Illumina

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_000785.4(CYP27B1):c.1166G>A (p.Arg389His)	rs118204009	0.00004
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His)	rs28934604

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