ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 71
Download table as spreadsheet
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.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001399.5(EDA):c.1094T>C (p.Val365Ala) rs397516654 0.00003
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001399.5(EDA):c.467G>A (p.Arg156His) rs132630314 0.00001
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
NM_001399.4(EDA):c.(?_-115)_(174_?)del
NM_001399.4(EDA):c.(?_397)-340_(496_?)dup
NM_001399.4(EDA):c.(?_397)_(502_?)del
NM_001399.4(EDA):c.(?_397-304)_(460_?)del
NM_001399.4(EDA):c.(?_503)-88_(1176_?)del
NM_001399.4(EDA):c.(?_707)_(741_?)del
NM_001399.4(EDA):c.(?_925)_(1176_?)del
NM_001399.5(EDA):c.1001G>C (p.Arg334Pro) rs142948132
NM_001399.5(EDA):c.1067C>T (p.Ala356Val) rs876657639
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.132_135dup (p.Phe46fs) rs727505089
NM_001399.5(EDA):c.164T>A (p.Leu55Gln) rs397516657
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.272dup (p.Ser91fs) rs397516656
NM_001399.5(EDA):c.2T>C (p.Met1Thr) rs397516659
NM_001399.5(EDA):c.319_322dup (p.Gln108fs) rs876657684
NM_001399.5(EDA):c.329C>A (p.Ser110Ter) rs397516660
NM_001399.5(EDA):c.347T>A (p.Leu116Ter) rs397516661
NM_001399.5(EDA):c.396+1G>A rs727504537
NM_001399.5(EDA):c.396+2T>G rs727504814
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.467G>T (p.Arg156Leu) rs132630314
NM_001399.5(EDA):c.474A>C (p.Lys158Asn) rs727504649
NM_001399.5(EDA):c.477A>T (p.Arg159Ser) rs876657640
NM_001399.5(EDA):c.502+1G>A rs727505013
NM_001399.5(EDA):c.526+5G>T rs397516664
NM_001399.5(EDA):c.527-6T>G rs876657803
NM_001399.5(EDA):c.546_581del (p.Asn185_Pro196del) rs397516665
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del) rs397516666
NM_001399.5(EDA):c.562_589del (p.Pro188fs) rs397516667
NM_001399.5(EDA):c.572_589del (p.188_190PGP[1]) rs397516668
NM_001399.5(EDA):c.599C>A (p.Pro200Gln) rs397516669
NM_001399.5(EDA):c.607C>T (p.Pro203Ser) rs397516671
NM_001399.5(EDA):c.626C>T (p.Pro209Leu) rs132630315
NM_001399.5(EDA):c.648_683del (p.Pro219_Gly230del) rs876657685
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001399.5(EDA):c.663_697del (p.Pro222fs) rs397516670
NM_001399.5(EDA):c.676C>T (p.Gln226Ter) rs727503007
NM_001399.5(EDA):c.730C>T (p.Arg244Ter) rs397516672
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.766C>T (p.Gln256Ter) rs727504417
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.809del (p.Val270fs) rs727503008
NM_001399.5(EDA):c.822G>A (p.Trp274Ter) rs397516675
NM_001399.5(EDA):c.822G>T (p.Trp274Cys) rs397516675
NM_001399.5(EDA):c.822del (p.Trp274fs) rs397516676
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) rs397516677
NM_001399.5(EDA):c.881A>T (p.Glu294Val) rs397516678
NM_001399.5(EDA):c.895G>A (p.Gly299Ser) rs397516679
NM_001399.5(EDA):c.902A>G (p.Tyr301Cys) rs397516681
NM_001399.5(EDA):c.911A>C (p.Tyr304Ser) rs876657642
NM_001399.5(EDA):c.917A>T (p.Gln306Leu) rs727503009
NM_001399.5(EDA):c.948del (p.Phe317fs) rs727503010
NM_001399.5(EDA):c.960T>G (p.Tyr320Ter) rs876657687
NM_001399.5(EDA):c.961G>T (p.Glu321Ter) rs397516682
NM_001399.5(EDA):c.991C>T (p.Gln331Ter) rs727503011

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.