ClinVar Miner

List of variants studied for Epidermolysis bullosa simplex, Koebner type by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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.815T>G (p.Met272Arg)	rs61371557

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