ClinVar Miner

List of variants in gene EDA reported as uncertain significance for X-linked hypohidrotic ectodermal dysplasia

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp) rs886039347
NM_001399.5(EDA):c.1106T>A (p.Ile369Asn) rs1569407331
NM_001399.5(EDA):c.167T>A (p.Leu56Gln) rs1569272203
NM_001399.5(EDA):c.242C>T (p.Ser81Leu)
NM_001399.5(EDA):c.301C>T (p.Pro101Ser) rs182251004
NM_001399.5(EDA):c.476G>C (p.Arg159Thr) rs1556039084
NM_001399.5(EDA):c.479G>A (p.Ser160Asn) rs1556039088
NM_001399.5(EDA):c.494G>C (p.Gly165Ala) rs1057521131
NM_001399.5(EDA):c.526+5G>C
NM_001399.5(EDA):c.605_631del (p.Ile202_Gly210del)
NM_001399.5(EDA):c.613A>T (p.Ile205Phe) rs1556098680
NM_001399.5(EDA):c.628G>C (p.Gly210Arg)
NM_001399.5(EDA):c.641T>A (p.Met214Lys) rs1569404950
NM_001399.5(EDA):c.670G>C (p.Gly224Arg)
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.814A>G (p.Asn272Asp) rs1556106742
NM_001399.5(EDA):c.853A>G (p.Lys285Glu) rs1556106974
NM_001399.5(EDA):c.876_893del (p.Glu292_Val297del)
NM_001399.5(EDA):c.941T>C (p.Phe314Ser) rs1556110180
NM_001399.5(EDA):c.970G>A (p.Val324Met) rs1556110308
NM_001399.5(EDA):c.97C>T (p.Arg33Trp) rs1168030930
NM_001399.5(EDA):c.986T>C (p.Phe329Ser) rs1569407150

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