List of variants reported as pathogenic for ectodermal dysplasia syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter)	rs2071063100
NM_001399.5(EDA):c.826C>T (p.Arg276Cys)	rs387907197
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)	rs397507483
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys)	rs1553253990
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His)	rs1553253989
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC

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