List of variants in gene CDC73 reported as pathogenic for bone disorder

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
CDC73, 41-BP DUP/INS
NM_024529.5(CDC73):c.131+1G>A	rs587776558
NM_024529.5(CDC73):c.131+1del	rs2103111785
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.271C>T (p.Arg91Ter)	rs1558280170
NM_024529.5(CDC73):c.3G>A (p.Met1Ile)	rs28942098
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter)	rs2103121721
NM_024529.5(CDC73):c.520_523del (p.Ser174fs)	rs2527324275
NM_024529.5(CDC73):c.626_629del (p.Lys209fs)	rs2103126261
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)	rs770439843
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)	rs80356649
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)	rs2527324739
NM_024529.5(CDC73):c.687_688del (p.Arg229fs)	rs760591174
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)	rs760591174
NM_024529.5(CDC73):c.766_767del (p.Val256fs)	rs80356650

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.