List of variants reported as pathogenic for hereditary epidermal appendage anomaly by Medical Molecular Genetics Department, National Research Center

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001399.5(EDA):c.492del (p.Gly165fs)	rs2019019815
NM_001399.5(EDA):c.602G>A (p.Gly201Glu)	rs2147509771
NM_001399.5(EDA):c.620G>A (p.Gly207Glu)	rs2020139491
NM_001399.5(EDA):c.628G>A (p.Gly210Arg)	rs1556098733
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1])	rs876657686
NM_001399.5(EDA):c.707-2A>T	rs2147511696
NM_001399.5(EDA):c.865C>T (p.Arg289Cys)	rs879255551
NM_001399.5(EDA):c.871G>A (p.Gly291Arg)	rs397516677
NM_001814.6(CTSC):c.622_628del (p.His208fs)
NM_022336.4(EDAR):c.204del (p.Tyr69fs)	rs1697322263
NM_030916.3(NECTIN4):c.880C>T (p.Arg294Ter)	rs1653335301
NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu)	rs200017138
NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys)	rs1657345576

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