ClinVar Miner

List of variants in gene DHCR7 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_001360.2(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.385_412+5del rs746482788
NM_001360.2(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.627-1G>A rs1057517210
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.2(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del)
NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)
NM_001360.3(DHCR7):c.98+2_98+6del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.