List of variants reported as pathogenic for ectodermal dysplasia syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)	rs132630312	0.00002
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)	rs121908426	0.00001
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)	rs397516662
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	rs121908595
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)	rs180177036
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)	rs180177037
NM_014112.5(TRPS1):c.2090dup (p.His697fs)	rs2130489877

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