ClinVar Miner

List of variants in gene PLEC reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_000445.3(PLEC):c.1333delC (p.Leu445Cysfs) rs886041915
NM_000445.4(PLEC):c.11368_11369delTC (p.Ser3790Glyfs) rs886044796
NM_000445.4(PLEC):c.12043dup (p.Glu4015Glyfs) rs864309674
NM_000445.4(PLEC):c.1486C>T (p.Gln496Ter) rs879255260
NM_000445.4(PLEC):c.2677_2685delCAGGAGGCC (p.Gln893_Ala895del) rs786205252
NM_000445.4(PLEC):c.2680_2693del (p.Glu894Alafs) rs864309671
NM_000445.4(PLEC):c.422_423delAG (p.Gln141Argfs) rs1554724125
NM_000445.4(PLEC):c.5105_5112delGGCGCGGC (p.Arg1702Glnfs) rs786205254
NM_000445.4(PLEC):c.5815delC (p.Leu1939Trpfs) rs786205253
NM_000445.4(PLEC):c.6169C>T (p.Gln2057Ter) rs387906801
NM_000445.4(PLEC):c.6955C>T (p.Arg2319Ter) rs387906802
NM_000445.4(PLEC):c.6991C>T (p.Gln2331Ter)
NM_000445.4(PLEC):c.7261C>T (p.Arg2421Ter) rs886044894
NM_000445.4(PLEC):c.7585_7588delCTGC (p.Leu2529Tyrfs) rs1554689309
NM_000445.4(PLEC):c.7612C>T (p.Gln2538Ter) rs1057517938
NM_000445.4(PLEC):c.9081_9082delGCinsTT (p.Gln3028Ter) rs1554683108
NM_000445.4(PLEC):c.9085C>T (p.Arg3029Ter) rs137853161
NM_000445.4(PLEC):c.913C>T (p.Gln305Ter) rs137853160
NM_201378.3(PLEC):c.1221G>A (p.Ser407=) rs864309672
NM_201378.3(PLEC):c.1_9del (p.Met1_Gly3del) rs864309673
NM_201378.3(PLEC):c.2286_2287insGT (p.Tyr763Valfs) rs1554714095
NM_201378.3(PLEC):c.4633C>T (p.Arg1545Ter) rs782185897
NM_201378.3(PLEC):c.9516_9517delAG (p.Glu3174Alafs) rs1554681167
NM_201380.3(PLEC):c.13708A>T (p.Lys4570Ter) rs864309634
NM_201380.3(PLEC):c.6328C>T (p.Arg2110Trp) rs80338756
NM_201380.3(PLEC):c.6343G>T (p.Glu2115Ter) rs864309635
NM_201382.3(PLEC):c.5775_5782dup (p.Leu1928Argfs) rs786205251
NM_201383.2(PLEC):c.4267C>T (p.Gln1423Ter) rs886044836
NM_201384.2(PLEC):c.46C>T (p.Arg16Ter) rs374419983

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.