ClinVar Miner

List of variants in gene EDA reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001399.5(EDA):c.1001G>C (p.Arg334Pro) rs142948132
NM_001399.5(EDA):c.1070G>C (p.Arg357Pro) rs61747506
NM_001399.5(EDA):c.1087A>G (p.Lys363Glu) rs397516653
NM_001399.5(EDA):c.1127A>G (p.His376Arg) rs1556111035
NM_001399.5(EDA):c.1151G>C (p.Arg384Thr) rs397516655
NM_001399.5(EDA):c.173_175del (p.Leu58del) rs397516658
NM_001399.5(EDA):c.201G>T (p.Glu67Asp) rs727505160
NM_001399.5(EDA):c.527-6T>G rs876657803
NM_001399.5(EDA):c.599C>A (p.Pro200Gln) rs397516669
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.740A>G (p.Gln247Arg) rs397516673
NM_001399.5(EDA):c.742-14T>G rs727504762
NM_001399.5(EDA):c.742-18T>G rs727504865
NM_001399.5(EDA):c.793G>A (p.Asp265Asn) rs397516674
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.881A>T (p.Glu294Val) rs397516678
NM_001399.5(EDA):c.917A>T (p.Gln306Leu) rs727503009

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