List of variants reported as pathogenic for autosomal recessive osteopetrosis 1 by Natera, Inc.

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.1674-1G>A	rs139617644	0.00019
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)	rs371263807	0.00010
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)	rs137853150	0.00007
NM_006019.4(TCIRG1):c.2236+1G>A	rs1475338876	0.00004
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)	rs1489993984	0.00001
NM_006019.4(TCIRG1):c.117+4A>T	rs751881962
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs)	rs1565164499
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)	rs748659068
NM_006019.4(TCIRG1):c.630+2T>C	rs1392364437

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.