List of variants reported as pathogenic for Epidermolytic palmoplantar keratoderma, 1 by OMIM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln)	rs57758262	0.00001
NM_000226.4(KRT9):c.469A>G (p.Met157Val)	rs58597584
NM_000226.4(KRT9):c.470T>C (p.Met157Thr)	rs59510579
NM_000226.4(KRT9):c.478C>G (p.Leu160Val)	rs28940896
NM_000226.4(KRT9):c.478C>T (p.Leu160Phe)	rs28940896
NM_000226.4(KRT9):c.481A>T (p.Asn161Tyr)	rs59296273
NM_000226.4(KRT9):c.482A>G (p.Asn161Ser)	rs56707768
NM_000226.4(KRT9):c.482A>T (p.Asn161Ile)	rs56707768
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys)	rs57536312
NM_000226.4(KRT9):c.487C>T (p.Arg163Trp)	rs59616921
NM_000226.4(KRT9):c.503T>C (p.Leu168Ser)	rs61157095
NM_000226.4(KRT9):c.511G>A (p.Val171Met)	rs57019720
NM_000226.4(KRT9):c.515A>C (p.Gln172Pro)	rs59878153

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