ClinVar Miner

List of variants studied for Junctional epidermolysis bullosa gravis of Herlitz by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_000228.3(LAMB3):c.958_1034dup (p.Asn345fs) rs1553277702 0.00028
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
NC_000001.11:g.209617587del rs1571796718
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_005562.3(LAMC2):c.343C>T (p.Arg115Ter) rs149930148

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.