ClinVar Miner

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

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Total variants: 53
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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

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