List of variants reported as pathogenic for diffuse palmoplantar keratoderma by 3billion

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter)	rs142859678	0.00019
NM_003784.4(SERPINB7):c.522dup (p.Val175fs)	rs672601344	0.00009
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln)	rs57758262	0.00001
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val)	rs28937872
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
NM_001942.4(DSG1):c.395C>A (p.Ser132Ter)	rs2144091452
NM_003784.4(SERPINB7):c.650_653del (p.Ser217fs)	rs534014297

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