ClinVar Miner

List of variants in gene EDA reported as pathogenic for not provided

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr) rs132630317
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.5(EDA):c.11del (p.Pro4fs) rs1602221405
NM_001399.5(EDA):c.245del (p.Gly82fs) rs1057517971
NM_001399.5(EDA):c.252del (p.Gly85fs) rs1569272328
NM_001399.5(EDA):c.2T>C (p.Met1Thr) rs397516659
NM_001399.5(EDA):c.390del (p.His131fs) rs1555972137
NM_001399.5(EDA):c.396+2T>C rs727504814
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.497del (p.Ala166fs) rs2147419276
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del) rs397516666
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001399.5(EDA):c.593del (p.Gly198fs) rs1556098553
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) rs876657685
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001399.5(EDA):c.663_697del (p.Pro222fs) rs397516670
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001399.5(EDA):c.707-1G>A rs886039466
NM_001399.5(EDA):c.730C>T (p.Arg244Ter) rs397516672
NM_001399.5(EDA):c.800C>G (p.Ser267Ter) rs2147516267
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) rs397516677
NM_001399.5(EDA):c.872G>A (p.Gly291Glu) rs886042021
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.922G>T (p.Glu308Ter) rs1131691566
NM_001399.5(EDA):c.929A>G (p.Tyr310Cys) rs2147518914

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