ClinVar Miner

List of variants in gene EDA reported as uncertain significance for hereditary epidermal appendage anomaly

Included ClinVar conditions (217):
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001399.5(EDA):c.157C>T (p.Leu53Phe) rs974684362 0.00002
NM_001399.5(EDA):c.301C>T (p.Pro101Ser) rs182251004 0.00002
NM_001399.5(EDA):c.396+10C>T rs754163471 0.00002
NM_001399.5(EDA):c.1163C>A (p.Ala388Asp) rs755527924 0.00001
NM_001399.5(EDA):c.249C>G (p.Thr83=) rs769141538 0.00001
NC_000023.11:g.70027902_70027919del rs397516668
NM_001399.5(EDA):c.1022C>T (p.Thr341Ile)
NM_001399.5(EDA):c.106G>A (p.Glu36Lys)
NM_001399.5(EDA):c.1073A>G (p.Gln358Arg)
NM_001399.5(EDA):c.1075A>G (p.Lys359Glu)
NM_001399.5(EDA):c.1106T>A (p.Ile369Asn) rs1569407331
NM_001399.5(EDA):c.1111A>T (p.Ile371Phe)
NM_001399.5(EDA):c.1112T>A (p.Ile371Asn)
NM_001399.5(EDA):c.11C>G (p.Pro4Arg)
NM_001399.5(EDA):c.148T>G (p.Ser50Ala) rs1931939988
NM_001399.5(EDA):c.149C>G (p.Ser50Trp)
NM_001399.5(EDA):c.396+5G>C rs1931970978
NM_001399.5(EDA):c.410A>T (p.Asn137Ile) rs2147419026
NM_001399.5(EDA):c.440C>G (p.Ser147Cys) rs2147419080
NM_001399.5(EDA):c.466_467delinsTC (p.Arg156Ser)
NM_001399.5(EDA):c.532A>G (p.Lys178Glu)
NM_001399.5(EDA):c.533_544del (p.Lys178_Pro182delinsThr)
NM_001399.5(EDA):c.562C>T (p.Pro188Ser)
NM_001399.5(EDA):c.607C>G (p.Pro203Ala)
NM_001399.5(EDA):c.613A>T (p.Ile205Phe) rs1556098680
NM_001399.5(EDA):c.628G>C (p.Gly210Arg) rs1556098733
NM_001399.5(EDA):c.634A>G (p.Thr212Ala)
NM_001399.5(EDA):c.646C>T (p.Pro216Ser) rs1556098806
NM_001399.5(EDA):c.741G>T (p.Gln247His) rs886042183
NM_001399.5(EDA):c.760C>T (p.Gln254Ter)
NM_001399.5(EDA):c.769G>C (p.Gly257Arg) rs1057517882
NM_001399.5(EDA):c.794A>C (p.Asp265Ala)
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.803G>T (p.Gly268Val)
NM_001399.5(EDA):c.814A>G (p.Asn272Asp) rs1556106742
NM_001399.5(EDA):c.827G>C (p.Arg276Pro)
NM_001399.5(EDA):c.848T>G (p.Val283Gly)
NM_001399.5(EDA):c.853A>G (p.Lys285Glu) rs1556106974
NM_001399.5(EDA):c.865C>G (p.Arg289Gly)
NM_001399.5(EDA):c.866_867delinsAA (p.Arg289Gln) rs2020226101
NM_001399.5(EDA):c.885_890del (p.Leu296_Val297del) rs2147516497
NM_001399.5(EDA):c.901T>G (p.Tyr301Asp) rs2020226899
NM_001399.5(EDA):c.914G>A (p.Ser305Asn) rs2020227357
NM_001399.5(EDA):c.924+5G>A rs2020227617
NM_001399.5(EDA):c.924+8C>A rs370406516
NM_001399.5(EDA):c.941T>C (p.Phe314Ser) rs1556110180
NM_001399.5(EDA):c.950T>G (p.Phe317Cys) rs2020251589
NM_001399.5(EDA):c.956G>A (p.Ser319Asn) rs483352804
NM_001399.5(EDA):c.961G>A (p.Glu321Lys) rs397516682
NM_001399.5(EDA):c.973G>T (p.Asp325Tyr) rs2147519024
NM_001399.5(EDA):c.97C>T (p.Arg33Trp) rs1168030930
NM_001399.5(EDA):c.983C>A (p.Pro328His)

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