ClinVar Miner

List of variants reported as pathogenic for sterol biosynthesis disorder by Genome Diagnostics Laboratory, University Medical Center Utrecht

Included ClinVar conditions (17):

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_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00072
NM_001360.3(DHCR7):c.964-1G>C	rs138659167

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