ClinVar Miner

List of variants studied for Epidermolysis bullosa simplex, Koebner type

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000424.4(KRT5):c.1394T>G (p.Val465Gly) rs1555156076
NM_000424.4(KRT5):c.1411C>T (p.Arg471Cys) rs267607448
NM_000424.4(KRT5):c.980T>C (p.Met327Thr) rs58072617
NM_000526.5(KRT14):c.1151T>C (p.Leu384Pro) rs59629244
NM_000526.5(KRT14):c.1231G>T (p.Glu411Ter) rs61664582
NM_000526.5(KRT14):c.1243T>C (p.Tyr415His) rs58380626
NM_000526.5(KRT14):c.355A>G (p.Met119Val) rs61263401
NM_000526.5(KRT14):c.373C>A (p.Arg125Ser) rs60399023
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000526.5(KRT14):c.808G>A (p.Val270Met) rs58560979
NM_000526.5(KRT14):c.815T>G (p.Met272Arg) rs61371557
NM_017644.3(KLHL24):c.1A>G (p.Met1Val) rs886037956
NM_017644.3(KLHL24):c.2T>C (p.Met1Thr) rs1057515580
NM_017644.3(KLHL24):c.3G>A (p.Met1Ile) rs886037957
NM_017644.3(KLHL24):c.3G>T (p.Met1Ile) rs886037957

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