List of variants reported as pathogenic for ectodermal dysplasia syndrome by Genetics and Molecular Pathology, SA Pathology

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	rs104894415	0.00001
NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)	rs2130531352

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