ClinVar Miner

List of variants reported as pathogenic for Epidermolysis bullosa simplex

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000424.4(KRT5):c.1406C>G (p.Thr469Ser) rs1264710617 0.00001
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) rs59115483 0.00001
NM_201384.3(PLEC):c.3850C>T (p.Leu1284Phe) rs782169513 0.00001
NM_000424.4(KRT5):c.1282G>A (p.Ala428Thr) rs267607458
NM_000424.4(KRT5):c.1283C>T (p.Ala428Val) rs59243757
NM_000424.4(KRT5):c.1388T>C (p.Leu463Pro) rs57599352
NM_000424.4(KRT5):c.1396G>C (p.Glu466Gln) rs1938615785
NM_000424.4(KRT5):c.1398G>C (p.Glu466Asp) rs62642056
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys) rs59190510
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) rs267607456
NM_000424.4(KRT5):c.556-16C>G rs376462752
NM_000424.4(KRT5):c.556G>A (p.Val186Met) rs121912475
NM_000424.4(KRT5):c.556G>T (p.Val186Leu) rs121912475
NM_000424.4(KRT5):c.557T>A (p.Val186Glu) rs267607457
NM_000424.4(KRT5):c.571C>G (p.Gln191Glu) rs1938667202
NM_000424.4(KRT5):c.579C>G (p.Asn193Lys) rs60586163
NM_000424.4(KRT5):c.587T>C (p.Leu196Pro) rs1938666838
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000424.4(KRT5):c.771delG rs1938645889
NM_000424.4(KRT5):c.961A>C (p.Thr321Pro) rs1938635857
NM_000424.4(KRT5):c.983A>T (p.Asp328Val) rs57142010
NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter) rs773920224
NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) rs1907401835
NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln) rs1907400034
NM_000526.5(KRT14):c.1231_1233del (p.Glu411del) rs267607389
NM_000526.5(KRT14):c.1244A>G (p.Tyr415Cys) rs59442925
NM_000526.5(KRT14):c.1274+5G>C rs1907395416
NM_000526.5(KRT14):c.346A>T (p.Lys116Ter) rs60338701
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000526.5(KRT14):c.385T>G (p.Tyr129Asp) rs60470268
NM_000526.5(KRT14):c.397G>T (p.Val133Leu) rs61027685
NM_000526.5(KRT14):c.749del (p.Lys250fs) rs267607406
NM_201384.3(PLEC):c.5663del (p.Lys1888fs) rs1824069966
NM_201384.3(PLEC):c.9294del (p.Glu3099fs) rs1822243280

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