ClinVar Miner

List of variants studied for Muscular dystrophy, limb-girdle, autosomal recessive 23 by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.381C>A (p.Thr127=) rs4404787 0.95273
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=) rs2229849 0.63102
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=) rs3749877 0.50817
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=) rs3749878 0.50693
NM_000426.4(LAMA2):c.5727-24T>A rs3828735 0.50074
NM_000426.4(LAMA2):c.5727-22C>T rs80125253 0.50051
NM_000426.4(LAMA2):c.5727-21T>G rs76902576 0.50019
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=) rs2229850 0.35164
NM_000426.4(LAMA2):c.3174+38A>G rs902373 0.34237
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=) rs1027199 0.26612
NM_000426.4(LAMA2):c.3411+13G>A rs3798663 0.25475
NM_000426.4(LAMA2):c.156C>T (p.Ile52=) rs1140366 0.08417

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.