ClinVar Miner

List of variants studied for Epidermolysis bullosa simplex 5B, with muscular dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) rs6558406 0.55590
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) rs6558405 0.54173
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) rs7014582 0.54076
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) rs7822511 0.53938
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) rs7833924 0.53335
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) rs55895668 0.53310
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) rs7819099 0.50384
NM_201384.3(PLEC):c.1264-15G>A rs7003580 0.45916
NM_201384.3(PLEC):c.1815+13A>G rs10866916 0.39200
NM_201384.3(PLEC):c.*10C>T rs1065837 0.30524
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) rs35916068 0.30160
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) rs2857829 0.29968
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) rs6558407 0.29956
NM_201384.3(PLEC):c.3757-6A>G rs11136333 0.29944
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) rs7016416 0.29943
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) rs3135109 0.29936
NM_201384.3(PLEC):c.3840+48A>G rs11782890 0.29923
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) rs11136334 0.29922
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) rs55836855 0.29922
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) rs11778026 0.29910
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) rs7002002 0.29901
NM_201384.3(PLEC):c.7426-35C>T rs11786903 0.29882
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) rs11777402 0.29844
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) rs56117011 0.29823
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) rs1140522 0.29794
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) rs6984820 0.29792
NM_201384.3(PLEC):c.7425+37C>T rs11786934 0.29669
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) rs11783799 0.29245
NM_201384.3(PLEC):c.1169+43T>A rs11783772 0.29193
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) rs55646585 0.29155
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) rs11136336 0.29153
NM_201384.3(PLEC):c.2923+37C>T rs11136335 0.28946
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) rs138924815 0.00931
NM_201384.3(PLEC):c.10105G>T (p.Val3369Leu) rs201373953 0.00032
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys) rs782713908 0.00004
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter) rs387906802 0.00002
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) rs6992333
NM_201384.3(PLEC):c.11962dup (p.Glu3988fs) rs864309674
NM_201384.3(PLEC):c.174+22G>C rs7823393
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) rs786205252
NM_201384.3(PLEC):c.378T>C (p.Ala126=) rs6993938
NM_201384.3(PLEC):c.4903C>T (p.Gln1635Ter)
NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs) rs786205254
NM_201384.3(PLEC):c.5734del (p.Leu1912fs) rs786205253
NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs) rs786205251
NM_201384.3(PLEC):c.5828AGCTGG[4] (p.1943EL[4]) rs782811601
NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter) rs387906801
NM_201384.3(PLEC):c.7318C>T (p.Gln2440Ter) rs2131266696
NM_201384.3(PLEC):c.815T>C (p.Val272Ala) rs1554721734
NM_201384.3(PLEC):c.946-33C>G rs6994460

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.