ClinVar Miner

List of variants in gene KRT5 studied for Epidermolysis bullosa simplex

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000424.4(KRT5):c.555+9C>T rs638907 0.18403
NM_000424.4(KRT5):c.1582A>G (p.Ser528Gly) rs11549950 0.17563
NM_000424.4(KRT5):c.1065A>C (p.Thr355=) rs4761924 0.15330
NM_000424.4(KRT5):c.*253C>T rs6603 0.15324
NM_000424.4(KRT5):c.1627G>A (p.Gly543Ser) rs11549949 0.15185
NM_000424.3(KRT5):c.-131A>G rs12821071 0.13952
NM_000424.4(KRT5):c.351C>T (p.Leu117=) rs11549951 0.07903
NM_000424.4(KRT5):c.413G>A (p.Gly138Glu) rs11170164 0.05271
NM_000424.4(KRT5):c.*185G>A rs11549960 0.01969
NM_000424.4(KRT5):c.142A>C (p.Arg48=) rs61747180 0.01877
NM_000424.4(KRT5):c.259T>G (p.Phe87Val) rs61747188 0.01764
NM_000424.4(KRT5):c.156G>A (p.Ala52=) rs74093478 0.01559
NM_000424.4(KRT5):c.-73T>C rs3741725 0.00838
NM_000424.4(KRT5):c.30G>A (p.Arg10=) rs61747182 0.00780
NM_000424.4(KRT5):c.1071C>T (p.Ala357=) rs149467228 0.00503
NM_000424.4(KRT5):c.1555G>A (p.Gly519Ser) rs140352947 0.00326
NM_000424.4(KRT5):c.1705G>A (p.Gly569Arg) rs148276250 0.00253
NM_000424.4(KRT5):c.*263T>C rs543314808 0.00140
NM_000424.4(KRT5):c.1475-6C>T rs142320369 0.00105
NM_000424.4(KRT5):c.381C>T (p.Phe127=) rs150390099 0.00069
NM_000424.4(KRT5):c.39C>T (p.Gly13=) rs116931869 0.00042
NM_000424.3(KRT5):c.-109C>T rs534901190 0.00029
NM_000424.4(KRT5):c.110G>A (p.Arg37Gln) rs61747181 0.00018
NM_000424.4(KRT5):c.115G>A (p.Gly39Arg) rs146136560 0.00015
NM_000424.4(KRT5):c.*320T>A rs886049623 0.00013
NM_000424.4(KRT5):c.907A>T (p.Met303Leu) rs199854656 0.00009
NM_000424.4(KRT5):c.1495T>C (p.Ser499Pro) rs201274668 0.00008
NM_000424.4(KRT5):c.1575C>T (p.Ala525=) rs202104381 0.00005
NM_000424.4(KRT5):c.*232T>C rs761866506 0.00004
NM_000424.4(KRT5):c.249C>T (p.Phe83=) rs780670406 0.00004
NM_000424.4(KRT5):c.57C>T (p.Thr19=) rs529397720 0.00004
NM_000424.4(KRT5):c.*134A>G rs568942940 0.00003
NM_000424.4(KRT5):c.-81C>T rs886049627 0.00003
NM_000424.4(KRT5):c.123C>T (p.Gly41=) rs769626917 0.00003
NM_000424.4(KRT5):c.1736C>A (p.Ser579Tyr) rs781707438 0.00003
NM_000424.4(KRT5):c.364G>A (p.Gly122Ser) rs781712315 0.00002
NM_000424.4(KRT5):c.877G>A (p.Val293Ile) rs886049625 0.00002
NM_000424.4(KRT5):c.*323T>C rs550268995 0.00001
NM_000424.4(KRT5):c.*59C>T rs886049624 0.00001
NM_000424.4(KRT5):c.1621G>A (p.Gly541Ser) rs200216169 0.00001
NM_000424.4(KRT5):c.247T>C (p.Phe83Leu) rs1372929067 0.00001
NM_000424.4(KRT5):c.508G>A (p.Glu170Lys) rs59115483 0.00001
NM_000424.4(KRT5):c.*271C>T rs942362509
NM_000424.4(KRT5):c.*334A>G rs958335838
NM_000424.4(KRT5):c.-69C>T rs886049626
NM_000424.4(KRT5):c.-7A>C rs1938697448
NM_000424.4(KRT5):c.1554C>A (p.Gly518=) rs144226740
NM_000424.4(KRT5):c.1649del (p.Gly550fs) rs61126080
NM_000424.4(KRT5):c.1676G>A (p.Arg559Gln) rs182482982
NM_000424.4(KRT5):c.352G>A (p.Gly118Ser) rs368543262
NM_000424.4(KRT5):c.357C>A (p.Gly119=) rs138218183
NM_000424.4(KRT5):c.381C>A (p.Phe127Leu) rs150390099
NM_000424.4(KRT5):c.495G>T (p.Arg165Ser) rs267607456
NM_000424.4(KRT5):c.72C>A (p.Thr24=) rs749195594
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu) rs57499817
NM_000424.4(KRT5):c.771-15C>T rs368623188
NM_000424.4(KRT5):c.771delG rs1938645889
NM_000424.4(KRT5):c.78T>G (p.Ser26=) rs1047343874
NM_000424.4(KRT5):c.817del (p.Phe272_Val273insTer) rs1565593355
NM_000424.4(KRT5):c.961A>C (p.Thr321Pro) rs1938635857
NM_000424.4(KRT5):c.983A>T (p.Asp328Val) rs57142010

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