List of variants reported as benign for autosomal recessive limb-girdle muscular dystrophy type 2A 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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)	rs1801449	0.23274
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)	rs1801496	0.09551
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)	rs17593	0.05293
NM_000070.3(CAPN3):c.1746-64C>T	rs17764849	0.03691
NM_000070.3(CAPN3):c.1029+3A>G	rs28364442	0.03285
NM_000070.3(CAPN3):c.78G>A (p.Pro26=)	rs62642519	0.01774
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)	rs17592	0.01574
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)	rs28364364	0.01193
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)	rs28364543	0.01154
NM_000070.3(CAPN3):c.1116-5A>G	rs28364467	0.01144
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)	rs35889956	0.01026
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)	rs61735534	0.00885
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)	rs1801505	0.00719
NM_000070.3(CAPN3):c.939G>A (p.Pro313=)	rs78369269	0.00698
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)	rs28364441	0.00600
NM_000070.3(CAPN3):c.1537-33G>A	rs143412460	0.00363

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.