List of variants reported as pathogenic for hereditary epidermal appendage anomaly by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.2782+1G>T	rs1007534611	0.00002
NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser)	rs397507473
NM_004333.6(BRAF):c.1722C>G (p.His574Gln)	rs397507481
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	rs267607040

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