List of variants in gene CDC73 reported as pathogenic by OMIM

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
CDC73, 41-BP DUP/INS
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)	rs121434263
NM_024529.5(CDC73):c.131+1G>A	rs587776558
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del)	rs587776561
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter)	rs121434265
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro)	rs121434264
NM_024529.5(CDC73):c.238-1G>A	rs587776559
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)	rs121434262
NM_024529.5(CDC73):c.375dup (p.Arg126fs)	rs1572150584
NM_024529.5(CDC73):c.3G>A (p.Met1Ile)	rs28942098
NM_024529.5(CDC73):c.54del (p.Ile18fs)	rs587776557
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)	rs80356649
NM_024529.5(CDC73):c.685_688del (p.Arg229fs)	rs760591174
NM_024529.5(CDC73):c.766_767del (p.Val256fs)	rs80356650
NM_024529.5(CDC73):c.85del (p.Glu29fs)	rs587776560

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.