List of variants in gene DHCR7 reported as pathogenic by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	rs11555217	0.00072
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	rs104886033	0.00004
NM_001360.3(DHCR7):c.964-1G>C	rs138659167

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