List of variants reported as uncertain significance for ectodermal dysplasia syndrome by 3billion, Medical Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys)	rs369419645	0.00001
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)	rs199422301	0.00001
NR_003051.4(RMRP):n.232C>T	rs762145032	0.00001
NM_001283009.2(RTEL1):c.3807G>C (p.Trp1269Cys)	rs2145481109
NM_001363.5(DKC1):c.1225C>T (p.Pro409Ser)	rs2148516431
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)	rs121912303
NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del)	rs2101750401
NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)
NM_004278.4(PIGL):c.262C>G (p.Arg88Gly)	rs1064795400
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC	rs1554651349

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