ClinVar Miner

List of variants in gene LAMA3 reported as likely benign for Junctional epidermolysis bullosa gravis of Herlitz

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198129.4(LAMA3):c.3622C>A (p.Pro1208Thr) rs17202961 0.05021
NM_198129.4(LAMA3):c.7797C>T (p.Asp2599=) rs61751706 0.00523
NM_198129.4(LAMA3):c.8629C>T (p.His2877Tyr) rs35153125 0.00264
NM_198129.4(LAMA3):c.8028C>T (p.Asn2676=) rs35737354 0.00238
NM_198129.4(LAMA3):c.9559C>T (p.Arg3187Cys) rs150956802 0.00200
NM_198129.4(LAMA3):c.7218C>T (p.Asp2406=) rs62093184 0.00134
NM_198129.4(LAMA3):c.4557C>T (p.Val1519=) rs202215313 0.00040
NM_198129.4(LAMA3):c.6436G>A (p.Ala2146Thr) rs146005577 0.00023
NM_198129.4(LAMA3):c.6836-36_6836-16del rs1555734493
NM_198129.4(LAMA3):c.7928G>T (p.Arg2643Leu) rs45516998
NM_198129.4(LAMA3):c.8576+7G>T rs1258107

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.