ClinVar Miner

List of variants reported as likely pathogenic for cholesterol metabolism disease by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (4):

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_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)	rs121908102	0.00013
NM_014762.4(DHCR24):c.571G>A (p.Glu191Lys)	rs119475041	0.00001

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