ClinVar Miner

List of variants in gene LAMB3 reported as uncertain significance for Junctional epidermolysis bullosa gravis of Herlitz

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000228.2(LAMB3):c.1090C>T (p.Arg364Trp) rs370699820
NM_000228.2(LAMB3):c.1150G>A (p.Asp384Asn) rs267598351
NM_000228.2(LAMB3):c.1459_1461dup (p.Asn487_Ser488insAsn) rs1553277238
NM_000228.2(LAMB3):c.2027_2029delTGT (p.Leu676del) rs1553276516
NM_000228.2(LAMB3):c.2036C>T (p.Pro679Leu) rs201223111
NM_000228.2(LAMB3):c.2138_2140delGAG (p.Gly713del) rs1553276448
NM_000228.2(LAMB3):c.2277_2282dup (p.Gly761_Thr762insGlyGly) rs752460751
NM_000228.2(LAMB3):c.2280_2282dup (p.Gly761_Thr762insGly) rs752460751
NM_000228.2(LAMB3):c.2864_2890del27 (p.Asp955_Gln963del) rs745574977
NM_000228.2(LAMB3):c.2945A>G (p.Asp982Gly) rs140769823
NM_000228.2(LAMB3):c.2962C>T (p.Arg988Trp) rs2229467
NM_000228.2(LAMB3):c.3007G>A (p.Gly1003Ser) rs886045862
NM_000228.2(LAMB3):c.3329C>T (p.Thr1110Ile) rs886045859
NM_000228.2(LAMB3):c.596G>C (p.Gly199Ala) rs121912486
NM_000228.2(LAMB3):c.822+2dup rs1553278151
NM_000228.2(LAMB3):c.868T>A (p.Cys290Ser) rs1553277846

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.