ClinVar Miner

List of variants in gene KRT5 reported as uncertain significance for Epidermolysis bullosa simplex

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000424.3(KRT5):c.-109C>T rs534901190 0.00029
NM_000424.4(KRT5):c.*320T>A rs886049623 0.00013
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.*134A>G rs568942940 0.00003
NM_000424.4(KRT5):c.-81C>T rs886049627 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.*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.*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.1676G>A (p.Arg559Gln) rs182482982
NM_000424.4(KRT5):c.381C>A (p.Phe127Leu) rs150390099
NM_000424.4(KRT5):c.72C>A (p.Thr24=) rs749195594
NM_000424.4(KRT5):c.771-15C>T rs368623188
NM_000424.4(KRT5):c.78T>G (p.Ser26=) rs1047343874

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