ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.1123A>G (p.Lys375Glu) rs781394318 0.00001
NM_001399.5(EDA):c.1067C>A (p.Ala356Asp) rs876657639
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.5(EDA):c.1137C>A (p.Phe379Leu) rs780582849
NM_001399.5(EDA):c.1144G>A (p.Ala382Thr) rs749830948
NM_001399.5(EDA):c.1150A>G (p.Arg384Gly) rs2147519411
NM_001399.5(EDA):c.229del (p.Arg77fs) rs2147197882
NM_001399.5(EDA):c.447del (p.Glu150fs) rs1602564282
NM_001399.5(EDA):c.494G>C (p.Gly165Ala) rs1057521131
NM_001399.5(EDA):c.607C>A (p.Pro203Thr) rs397516671
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1]) rs1064793104
NM_001399.5(EDA):c.617C>T (p.Pro206Leu) rs1057520742
NM_001399.5(EDA):c.646C>T (p.Pro216Ser) rs1556098806
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) rs876657685
NM_001399.5(EDA):c.741+2T>C rs2147511758
NM_001399.5(EDA):c.764G>A (p.Gly255Asp) rs1064793105
NM_001399.5(EDA):c.769G>C (p.Gly257Arg) rs1057517882
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) rs387907197
NM_001399.5(EDA):c.827G>T (p.Arg276Leu) rs1057517731
NM_001399.5(EDA):c.917A>G (p.Gln306Arg) rs727503009
NM_001399.5(EDA):c.923A>G (p.Glu308Gly) rs1064793106
NM_001399.5(EDA):c.931T>C (p.Tyr311His) rs1085307599
NM_001399.5(EDA):c.932A>C (p.Tyr311Ser) rs1057518211
NM_001399.5(EDA):c.953C>A (p.Ala318Asp) rs2147518971
NM_001399.5(EDA):c.958_1005del (p.Tyr320_Ser335del) rs1556110195
NM_001399.5(EDA):c.998C>G (p.Thr333Arg) rs1556110379

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