List of variants in gene CA2 reported as pathogenic for autosomal recessive osteopetrosis 3

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_000067.3(CA2):c.232+1G>A	rs573750741	0.00001
NM_000067.3(CA2):c.508-1G>C	rs1444065478	0.00001
NM_000067.3(CA2):c.120T>G (p.Tyr40Ter)	rs118203934
NM_000067.3(CA2):c.319C>T (p.His107Tyr)	rs118203933
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)	rs568377824
NM_000067.3(CA2):c.621del (p.Trp208fs)	rs2536489629
NM_000067.3(CA2):c.630_641delinsCACA (p.Leu211fs)	rs2536489640
NM_000067.3(CA2):c.681del (p.Lys227fs)	rs779869368

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.