List of variants reported as pathogenic for Erythrokeratodermia variabilis et progressiva 1

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024009.3(GJB3):c.101T>C (p.Leu34Pro)	rs28937583
NM_024009.3(GJB3):c.125G>C (p.Arg42Pro)	rs74315321
NM_024009.3(GJB3):c.256T>A (p.Cys86Ser)	rs74315317
NM_024009.3(GJB3):c.34G>C (p.Gly12Arg)	rs74315315
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp)	rs74315316

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