List of variants reported as likely pathogenic for ectodermal dysplasia syndrome by Genomics England Pilot Project, Genomics England

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_153717.3(EVC):c.2894+3A>G	rs1424976594	0.00001
NM_000165.5(GJA1):c.602C>A (p.Ser201Tyr)	rs2114283819
NM_004415.4(DSP):c.2611_2614del (p.Asp871fs)	rs1265117085
NM_004415.4(DSP):c.818dup (p.Asn274fs)	rs1758828554
NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter)	rs2071377438
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter)	rs1553889992

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