List of variants studied for ectodermal dysplasia syndrome by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002755.4(MAP2K1):c.427A>G (p.Met143Val)	rs533695080	0.00001
NM_001099274.3(TINF2):c.1292del (p.Pro431fs)	rs770529422
NM_001854.4(COL11A1):c.2508dup (p.Leu837fs)	rs1663313424
NM_001854.4(COL11A1):c.3816+1G>A	rs398122828
NM_014112.5(TRPS1):c.94C>T (p.Gln32Ter)	rs1818358114
NM_153717.3(EVC):c.1465-1G>A	rs1731156302

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