List of variants reported as benign for Geroderma osteodysplastica

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_152281.3(GORAB):c.21A>C (p.Gly7=)	rs7531125	0.93522
NM_152281.3(GORAB):c.883G>A (p.Glu295Lys)	rs913257	0.52780
NM_152281.3(GORAB):c.*1064T>A	rs6427262	0.31699
NM_152281.3(GORAB):c.*47T>G	rs7552922	0.15016
NM_152281.3(GORAB):c.*1065A>T	rs12063774	0.05681
NM_152281.3(GORAB):c.*884C>A	rs76753490	0.05650
NM_152281.3(GORAB):c.*883G>A	rs76509176	0.05649
NM_152281.3(GORAB):c.62-3T>C	rs73029138	0.01889
NM_152281.3(GORAB):c.657C>T (p.Tyr219=)	rs76365864	0.00986
NM_152281.3(GORAB):c.*534T>C	rs41272499	0.00754
NM_152281.3(GORAB):c.618C>T (p.Leu206=)	rs35872826	0.00535
NM_152281.3(GORAB):c.*1217T>C	rs77280970	0.00081
NM_152281.3(GORAB):c.*1298T>C	rs185248405	0.00033
NM_152281.3(GORAB):c.663-12A>G	rs201410218	0.00021
NM_152281.3(GORAB):c.61+17A>C	rs76513879

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.