List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Kariminejad - Najmabadi Pathology & Genetics Center

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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000070.3(CAPN3):c.1448C>A (p.Ala483Asp)	rs781723572	0.00001
NM_000070.3(CAPN3):c.2105C>T (p.Ala702Val)	rs886042557	0.00001
NM_000070.3(CAPN3):c.379+3A>G	rs1164215001	0.00001
NM_000070.3(CAPN3):c.1115+1dup
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg)	rs775453643
NM_000070.3(CAPN3):c.1347C>A (p.Asn449Lys)
NM_000070.3(CAPN3):c.499-1G>C
NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)	rs1555420475
NM_000070.3(CAPN3):c.568del (p.Val190fs)
NM_000070.3(CAPN3):c.795_800del (p.Ile266_Asp267del)	rs869312852

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.