List of variants reported as likely pathogenic for DKC1-related disorder

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)	rs753666055	0.00004
NM_001363.5(DKC1):c.1054A>G (p.Thr352Ala)	rs1114167422
NM_001363.5(DKC1):c.1133G>A (p.Arg378Gln)	rs1057520719
NM_001363.5(DKC1):c.114C>G (p.Ile38Met)
NM_001363.5(DKC1):c.1195G>C (p.Asp399His)	rs2071871731
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn)	rs1557265435
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr)	rs2071733846
NM_001363.5(DKC1):c.204C>G (p.His68Gln)	rs199422245
NM_001363.5(DKC1):c.964C>T (p.Arg322Ter)

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.