ClinVar Miner

List of variants in gene EDA reported as likely benign

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Gene type:
ClinVar version:
Total variants: 174
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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.1001G>A (p.Arg334His) rs142948132 0.00042
NM_001399.5(EDA):c.464G>A (p.Arg155His) rs144403117 0.00026
NM_001399.5(EDA):c.390G>T (p.Gly130=) rs143746851 0.00012
NM_001399.5(EDA):c.870C>T (p.Ser290=) rs760869403 0.00007
NM_001399.5(EDA):c.1080C>T (p.Ile360=) rs375844339 0.00004
NM_001399.5(EDA):c.1137C>T (p.Phe379=) rs780582849 0.00004
NM_001399.5(EDA):c.707-9A>G rs369843699 0.00004
NM_001399.5(EDA):c.804T>C (p.Gly268=) rs779193585 0.00004
NM_001399.5(EDA):c.808G>A (p.Val270Met) rs748191518 0.00004
NM_001399.5(EDA):c.1014G>A (p.Thr338=) rs750674219 0.00003
NM_001399.5(EDA):c.111G>A (p.Gly37=) rs1301485954 0.00003
NM_001399.5(EDA):c.1168G>A (p.Ala390Thr) rs746523921 0.00003
NM_001399.5(EDA):c.242C>T (p.Ser81Leu) rs780456712 0.00003
NM_001399.5(EDA):c.345A>G (p.Pro115=) rs775366784 0.00003
NM_001399.5(EDA):c.371A>G (p.His124Arg) rs751470511 0.00003
NM_001399.5(EDA):c.503-8T>C rs752434802 0.00003
NM_001399.5(EDA):c.56A>C (p.Glu19Ala) rs752730106 0.00003
NM_001399.5(EDA):c.1099G>A (p.Ala367Thr) rs368531049 0.00002
NM_001399.5(EDA):c.135T>C (p.Gly45=) rs766017052 0.00002
NM_001399.5(EDA):c.396+10C>T rs754163471 0.00002
NM_001399.5(EDA):c.449A>G (p.Glu150Gly) rs764642744 0.00002
NM_001399.5(EDA):c.503-5T>C rs183243858 0.00002
NM_001399.5(EDA):c.546T>C (p.Pro182=) rs758937877 0.00002
NM_001399.5(EDA):c.741+5G>T rs763687144 0.00002
NM_001399.5(EDA):c.759A>G (p.Leu253=) rs757048479 0.00002
NM_001399.5(EDA):c.1071G>A (p.Arg357=) rs1453813427 0.00001
NM_001399.5(EDA):c.1170A>G (p.Ala390=) rs1373879719 0.00001
NM_001399.5(EDA):c.234T>C (p.Leu78=) rs1569272277 0.00001
NM_001399.5(EDA):c.249C>G (p.Thr83=) rs769141538 0.00001
NM_001399.5(EDA):c.346T>C (p.Leu116=) rs1217340038 0.00001
NM_001399.5(EDA):c.403C>T (p.Leu135=) rs765510570 0.00001
NM_001399.5(EDA):c.558C>T (p.Gly186=) rs1569404832 0.00001
NM_001399.5(EDA):c.57G>A (p.Glu19=) rs758521262 0.00001
NM_001399.5(EDA):c.669T>G (p.Pro223=) rs1248603808 0.00001
NM_001399.5(EDA):c.707-5T>C rs761304256 0.00001
NM_001399.5(EDA):c.777A>C (p.Ala259=) rs777145505 0.00001
NM_001399.5(EDA):c.834T>G (p.Thr278=) rs749576852 0.00001
NM_001399.5(EDA):c.864C>T (p.Pro288=) rs1569406470 0.00001
NM_001399.5(EDA):c.924+9G>C rs761263650 0.00001
NM_001399.5(EDA):c.925-6A>G rs765272179 0.00001
NM_001399.5(EDA):c.990G>A (p.Leu330=) rs751769463 0.00001
GRCh38/hg38 Xq13.1(chrX:69789628-69822584)x1
NM_001399.5(EDA):c.1008C>T (p.Ile336=) rs746241095
NM_001399.5(EDA):c.1010A>T (p.Glu337Val)
NM_001399.5(EDA):c.1026C>T (p.Asn342=) rs2147519135
NM_001399.5(EDA):c.1035T>C (p.Thr345=) rs2147519148
NM_001399.5(EDA):c.1041T>C (p.Tyr347=) rs2020253809
NM_001399.5(EDA):c.1068C>T (p.Ala356=)
NM_001399.5(EDA):c.1074G>A (p.Gln358=) rs2147519229
NM_001399.5(EDA):c.111G>C (p.Gly37=) rs1301485954
NM_001399.5(EDA):c.1143G>T (p.Gly381=)
NM_001399.5(EDA):c.1144G>T (p.Ala382Ser)
NM_001399.5(EDA):c.1167T>G (p.Pro389=)
NM_001399.5(EDA):c.121C>T (p.Leu41=) rs2147197470
NM_001399.5(EDA):c.166C>T (p.Leu56=)
NM_001399.5(EDA):c.183C>T (p.Tyr61=) rs132630318
NM_001399.5(EDA):c.195C>A (p.Arg65=) rs2147197722
NM_001399.5(EDA):c.198G>A (p.Ser66=)
NM_001399.5(EDA):c.198G>C (p.Ser66=)
NM_001399.5(EDA):c.218G>C (p.Gly73Ala)
NM_001399.5(EDA):c.225G>A (p.Glu75=)
NM_001399.5(EDA):c.234T>A (p.Leu78=) rs1569272277
NM_001399.5(EDA):c.243G>C (p.Ser81=)
NM_001399.5(EDA):c.243_251del (p.Pro84_Thr86del)
NM_001399.5(EDA):c.249C>T (p.Thr83=) rs769141538
NM_001399.5(EDA):c.250_258del (p.Pro84_Thr86del) rs763527972
NM_001399.5(EDA):c.258C>T (p.Thr86=) rs1931955604
NM_001399.5(EDA):c.273C>T (p.Ser91=)
NM_001399.5(EDA):c.288C>G (p.Leu96=)
NM_001399.5(EDA):c.28G>C (p.Glu10Gln)
NM_001399.5(EDA):c.318T>C (p.Leu106=) rs1602222372
NM_001399.5(EDA):c.321G>A (p.Gly107=) rs2147198265
NM_001399.5(EDA):c.321G>C (p.Gly107=)
NM_001399.5(EDA):c.327G>C (p.Pro109=)
NM_001399.5(EDA):c.345A>T (p.Pro115=) rs775366784
NM_001399.5(EDA):c.354G>A (p.Pro118=)
NM_001399.5(EDA):c.354G>C (p.Pro118=) rs762842929
NM_001399.5(EDA):c.366A>C (p.Ala122=) rs1931965002
NM_001399.5(EDA):c.36G>A (p.Leu12=)
NM_001399.5(EDA):c.375T>C (p.Ser125=)
NM_001399.5(EDA):c.387C>G (p.Asp129Glu)
NM_001399.5(EDA):c.396+53493_396+53498dup
NM_001399.5(EDA):c.396+53494_396+53498dup
NM_001399.5(EDA):c.396+53496_396+53498dup
NM_001399.5(EDA):c.396+9C>T rs1931971305
NM_001399.5(EDA):c.397-12T>C
NM_001399.5(EDA):c.397-16_397-11del
NM_001399.5(EDA):c.397-19G>A
NM_001399.5(EDA):c.397-6T>C
NM_001399.5(EDA):c.39T>C (p.Pro13=)
NM_001399.5(EDA):c.406T>C (p.Leu136=)
NM_001399.5(EDA):c.414C>T (p.Phe138=)
NM_001399.5(EDA):c.42A>G (p.Ala14=)
NM_001399.5(EDA):c.456G>A (p.Arg152=) rs2147419121
NM_001399.5(EDA):c.459T>C (p.Arg153=) rs2147419146
NM_001399.5(EDA):c.459T>G (p.Arg153=)
NM_001399.5(EDA):c.462T>C (p.Val154=)
NM_001399.5(EDA):c.471T>C (p.Asn157=)
NM_001399.5(EDA):c.48G>A (p.Ala16=) rs2147197188
NM_001399.5(EDA):c.497C>T (p.Ala166Val)
NM_001399.5(EDA):c.502+10_502+14del
NM_001399.5(EDA):c.502+16T>C
NM_001399.5(EDA):c.503-4A>C rs1602614380
NM_001399.5(EDA):c.526+17A>G
NM_001399.5(EDA):c.527-18del
NM_001399.5(EDA):c.527-19A>G
NM_001399.5(EDA):c.527-7T>C rs2147509468
NM_001399.5(EDA):c.527-9A>G
NM_001399.5(EDA):c.528A>G (p.Gly176=) rs2147509479
NM_001399.5(EDA):c.540A>G (p.Gly180=)
NM_001399.5(EDA):c.546T>G (p.Pro182=) rs758937877
NM_001399.5(EDA):c.552C>A (p.Pro184=)
NM_001399.5(EDA):c.564A>G (p.Pro188=)
NM_001399.5(EDA):c.570C>T (p.Pro190=) rs1328353332
NM_001399.5(EDA):c.582A>T (p.Pro194=) rs2147509679
NM_001399.5(EDA):c.588C>A (p.Pro196=) rs2020137851
NM_001399.5(EDA):c.597C>T (p.Pro199=)
NM_001399.5(EDA):c.612G>A (p.Gly204=)
NM_001399.5(EDA):c.636T>A (p.Thr212=)
NM_001399.5(EDA):c.66C>T (p.Ser22=) rs2147197257
NM_001399.5(EDA):c.672T>C (p.Gly224=)
NM_001399.5(EDA):c.684C>T (p.Pro228=) rs1255651906
NM_001399.5(EDA):c.706+10_706+11del rs1347482754
NM_001399.5(EDA):c.706+13G>C
NM_001399.5(EDA):c.706+14T>A
NM_001399.5(EDA):c.706+14T>C
NM_001399.5(EDA):c.706+8C>A
NM_001399.5(EDA):c.707-15T>G
NM_001399.5(EDA):c.707-17C>A
NM_001399.5(EDA):c.707-7T>C
NM_001399.5(EDA):c.714T>C (p.Ala238=) rs2147511706
NM_001399.5(EDA):c.732A>T (p.Arg244=) rs2147511739
NM_001399.5(EDA):c.741+17T>C
NM_001399.5(EDA):c.741+18C>T
NM_001399.5(EDA):c.742-20_742-17del
NM_001399.5(EDA):c.744A>G (p.Pro248=) rs2147512873
NM_001399.5(EDA):c.753G>T (p.Val251=)
NM_001399.5(EDA):c.759A>T (p.Leu253=)
NM_001399.5(EDA):c.771G>A (p.Gly257=) rs2147512913
NM_001399.5(EDA):c.777A>G (p.Ala259=) rs777145505
NM_001399.5(EDA):c.793+10A>G
NM_001399.5(EDA):c.793+19del
NM_001399.5(EDA):c.793+20C>G
NM_001399.5(EDA):c.794-11C>T rs2147516230
NM_001399.5(EDA):c.794-14_794-12del
NM_001399.5(EDA):c.794-7T>C
NM_001399.5(EDA):c.798T>C (p.Leu266=) rs2147516257
NM_001399.5(EDA):c.810G>A (p.Val270=)
NM_001399.5(EDA):c.831C>T (p.Ile277=)
NM_001399.5(EDA):c.852T>C (p.Phe284=) rs2147516387
NM_001399.5(EDA):c.858A>G (p.Leu286=) rs2147516404
NM_001399.5(EDA):c.867C>A (p.Arg289=) rs1471642587
NM_001399.5(EDA):c.867C>T (p.Arg289=)
NM_001399.5(EDA):c.873G>A (p.Gly291=)
NM_001399.5(EDA):c.885A>G (p.Val295=)
NM_001399.5(EDA):c.886C>T (p.Leu296=)
NM_001399.5(EDA):c.894C>T (p.Asp298=) rs1602623024
NM_001399.5(EDA):c.897C>T (p.Gly299=)
NM_001399.5(EDA):c.90C>A (p.Ala30=)
NM_001399.5(EDA):c.924+14T>G
NM_001399.5(EDA):c.924+15A>C
NM_001399.5(EDA):c.924+20T>G
NM_001399.5(EDA):c.924+8C>T
NM_001399.5(EDA):c.924+9G>A
NM_001399.5(EDA):c.925-11C>T
NM_001399.5(EDA):c.925-13G>A
NM_001399.5(EDA):c.925-17T>G
NM_001399.5(EDA):c.927A>G (p.Val309=)
NM_001399.5(EDA):c.930C>T (p.Tyr310=)
NM_001399.5(EDA):c.960T>C (p.Tyr320=)
NM_001399.5(EDA):c.97C>A (p.Arg33=)
NM_001399.5(EDA):c.988C>T (p.Leu330=) rs2147519044
NM_001399.5(EDA):c.993G>A (p.Gln331=)

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