ClinVar Miner

List of variants in gene EDA reported as benign by Invitae

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001399.5(EDA):c.706+11_706+12del rs10579679 0.45223
NM_001399.5(EDA):c.742-11C>T rs2296765 0.30200
NM_001399.5(EDA):c.381C>T (p.Ser127=) rs148738342 0.00480
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.1001G>A (p.Arg334His) rs142948132 0.00042
NM_001399.5(EDA):c.60A>C (p.Arg20=) rs183801635 0.00033
NM_001399.5(EDA):c.464G>A (p.Arg155His) rs144403117 0.00026
NM_001399.5(EDA):c.833C>G (p.Thr278Ser) rs375753764 0.00016
NM_001399.5(EDA):c.435A>G (p.Pro145=) rs146844463 0.00014
NM_001399.5(EDA):c.390G>T (p.Gly130=) rs143746851 0.00012
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001399.5(EDA):c.741+9G>A rs751258727 0.00008
NM_001399.5(EDA):c.526+10T>G rs957016563 0.00007
NM_001399.5(EDA):c.1070G>A (p.Arg357Gln) rs61747506 0.00006
NM_001399.5(EDA):c.717T>G (p.Asp239Glu) rs766810445 0.00005
NM_001399.5(EDA):c.469A>G (p.Asn157Asp) rs374824991 0.00004
NM_001399.5(EDA):c.1014G>A (p.Thr338=) rs750674219 0.00003
NM_001399.5(EDA):c.1098C>T (p.His366=) rs1322090620 0.00003
NM_001399.5(EDA):c.1124A>G (p.Lys375Arg) rs750739438 0.00003
NM_001399.5(EDA):c.277C>T (p.Leu93Phe) rs746479442 0.00003
NM_001399.5(EDA):c.1083C>T (p.Ala361=) rs780464771 0.00002
NM_001399.5(EDA):c.132G>C (p.Leu44=) rs760109372 0.00002
NM_001399.5(EDA):c.502+10C>T rs771904661 0.00001
NM_001399.5(EDA):c.879G>A (p.Leu293=) rs746437230 0.00001
NM_001399.5(EDA):c.1000C>T (p.Arg334Cys)
NM_001399.5(EDA):c.1044C>T (p.Thr348=)
NM_001399.5(EDA):c.1104C>T (p.Asp368=) rs150292516
NM_001399.5(EDA):c.197C>T (p.Ser66Leu)
NM_001399.5(EDA):c.205C>T (p.Arg69Trp)
NM_001399.5(EDA):c.215G>A (p.Arg72His)
NM_001399.5(EDA):c.250_258del (p.Pro84_Thr86del) rs763527972
NM_001399.5(EDA):c.503-13A>G
NM_001399.5(EDA):c.503-14T>C
NM_001399.5(EDA):c.526+20A>C
NM_001399.5(EDA):c.707-18T>G
NM_001399.5(EDA):c.741+18C>G
NM_001399.5(EDA):c.793+19T>C

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