List of variants reported as pathogenic for hereditary epidermal appendage anomaly by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter)	rs376133710	0.00002
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	rs267607038	0.00001
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)	rs132630313
NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn)	rs397507476
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	rs180177042

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