List of variants in gene LAMA2 reported as pathogenic by OMIM

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)	rs147077184	0.00338
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)	rs121913572	0.00004
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr)	rs121913574	0.00001
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg)	rs121913573	0.00001
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)	rs121913577	0.00001
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter)	rs121913575	0.00001
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro)	rs121913570	0.00001
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)	rs202247790
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter)	rs121913569
NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter)	rs1562200866
NM_000426.4(LAMA2):c.3924+2T>C	rs1554269966
NM_000426.4(LAMA2):c.4524-2A>T	rs1554278541
NM_000426.4(LAMA2):c.4860+2delinsGGCC	rs1562497781
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter)	rs121913576
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro)	rs1562273395
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
NM_000426.4(LAMA2):c.825del (p.Tyr276fs)	rs1562275792
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter)	rs121913571

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.