List of variants reported as pathogenic for ectodermal dysplasia syndrome by MGZ Medical Genetics Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01450
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)	rs121908119	0.00087
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)	rs139455627	0.00027
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)	rs397516792

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