List of variants in gene ATP6V0A2 reported as not provided for Cutis laxa with osteodystrophy

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)	rs80356750	0.00001
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)	rs80356758	0.00001
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)	rs80356755
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn)	rs367543008
NM_012463.4(ATP6V0A2):c.294+1G>A	rs80356751
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)	rs80356752
NM_012463.4(ATP6V0A2):c.732-2A>G	rs80356753
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs)	rs80356754

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.