ClinVar Miner

List of variants in gene EYA4 studied for Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 145
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_004100.5(EYA4):c.768A>G (p.Ser256=) rs147135637 0.00039
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn) rs144415484 0.00037
NM_004100.5(EYA4):c.749C>A (p.Thr250Asn) rs143757415 0.00034
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr) rs146999911 0.00015
NM_004100.5(EYA4):c.1161C>T (p.Leu387=) rs140472262 0.00009
NM_004100.5(EYA4):c.9C>T (p.Asp3=) rs374322196 0.00009
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg) rs758076073 0.00006
NM_004100.5(EYA4):c.278-4G>A rs201806127 0.00005
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) rs727503050 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_004100.5(EYA4):c.741A>G (p.Pro247=) rs752226573 0.00004
NM_004100.5(EYA4):c.999C>A (p.Ser333=) rs894683876 0.00004
NM_004100.5(EYA4):c.16G>A (p.Asp6Asn) rs1253239225 0.00003
NM_004100.5(EYA4):c.528C>T (p.Ala176=) rs199701258 0.00003
NM_004100.5(EYA4):c.660C>A (p.Leu220=) rs755795461 0.00003
NM_004100.5(EYA4):c.813A>G (p.Pro271=) rs370562413 0.00003
NM_004100.5(EYA4):c.824C>G (p.Ala275Gly) rs748654006 0.00003
NM_004100.5(EYA4):c.848A>G (p.Gln283Arg) rs376151731 0.00003
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) rs374522988 0.00003
NM_004100.5(EYA4):c.955C>T (p.Leu319=) rs370874438 0.00003
NM_004100.5(EYA4):c.973G>A (p.Glu325Lys) rs1003638503 0.00003
NM_004100.5(EYA4):c.211G>A (p.Glu71Lys) rs537561870 0.00002
NM_004100.5(EYA4):c.217A>G (p.Met73Val) rs970732881 0.00002
NM_004100.5(EYA4):c.347C>T (p.Ala116Val) rs747223436 0.00002
NM_004100.5(EYA4):c.348G>A (p.Ala116=) rs373496105 0.00002
NM_004100.5(EYA4):c.550A>G (p.Thr184Ala) rs886039203 0.00002
NM_004100.5(EYA4):c.579C>T (p.Tyr193=) rs747954279 0.00002
NM_004100.5(EYA4):c.5A>G (p.Glu2Gly) rs780081930 0.00002
NM_004100.5(EYA4):c.704C>T (p.Pro235Leu) rs765608642 0.00002
NM_004100.5(EYA4):c.861A>G (p.Ala287=) rs775461679 0.00002
NM_004100.5(EYA4):c.946C>T (p.Leu316Phe) rs1188519938 0.00002
NM_004100.5(EYA4):c.961A>G (p.Asn321Asp) rs202049252 0.00002
NM_004100.5(EYA4):c.971-3T>C rs377224718 0.00002
NM_004100.5(EYA4):c.1066C>G (p.Arg356Gly) rs776882781 0.00001
NM_004100.5(EYA4):c.1078C>A (p.Pro360Thr) rs765773822 0.00001
NM_004100.5(EYA4):c.1095T>C (p.Asp365=) rs779806687 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp) rs200042576 0.00001
NM_004100.5(EYA4):c.271G>T (p.Ala91Ser) rs1356492542 0.00001
NM_004100.5(EYA4):c.2T>C (p.Met1Thr) rs200593099 0.00001
NM_004100.5(EYA4):c.349C>T (p.Leu117Phe) rs1044216762 0.00001
NM_004100.5(EYA4):c.407A>G (p.His136Arg) rs751662203 0.00001
NM_004100.5(EYA4):c.478A>G (p.Met160Val) rs1268878098 0.00001
NM_004100.5(EYA4):c.509C>T (p.Ser170Leu) rs184768806 0.00001
NM_004100.5(EYA4):c.552A>G (p.Thr184=) rs759974412 0.00001
NM_004100.5(EYA4):c.557A>G (p.Gln186Arg) rs767996783 0.00001
NM_004100.5(EYA4):c.601G>A (p.Ala201Thr) rs765515937 0.00001
NM_004100.5(EYA4):c.668G>C (p.Ser223Thr) rs1468256328 0.00001
NM_004100.5(EYA4):c.675G>T (p.Gly225=) rs746266041 0.00001
NM_004100.5(EYA4):c.683C>T (p.Thr228Ile) rs747533734 0.00001
NM_004100.5(EYA4):c.707A>G (p.Tyr236Cys) rs1060502993 0.00001
NM_004100.5(EYA4):c.723A>G (p.Pro241=) rs556550485 0.00001
NM_004100.5(EYA4):c.790A>G (p.Ser264Gly) rs1392356186 0.00001
NM_004100.5(EYA4):c.888G>A (p.Ser296=) rs768010410 0.00001
NM_004100.5(EYA4):c.89T>A (p.Met30Lys) rs1554259054 0.00001
NM_004100.5(EYA4):c.901G>A (p.Asp301Asn) rs779172192 0.00001
NM_004100.5(EYA4):c.1001C>T (p.Thr334Ile)
NM_004100.5(EYA4):c.1010A>G (p.Lys337Arg) rs755172395
NM_004100.5(EYA4):c.1039T>A (p.Ser347Thr)
NM_004100.5(EYA4):c.103C>G (p.Leu35Val) rs35562371
NM_004100.5(EYA4):c.1042G>C (p.Gly348Arg) rs1279116848
NM_004100.5(EYA4):c.1053C>T (p.Ser351=)
NM_004100.5(EYA4):c.1068G>A (p.Arg356=)
NM_004100.5(EYA4):c.1087C>A (p.Pro363Thr) rs766386665
NM_004100.5(EYA4):c.1090C>T (p.Pro364Ser)
NM_004100.5(EYA4):c.1144G>C (p.Val382Leu)
NM_004100.5(EYA4):c.1152C>T (p.His384=)
NM_004100.5(EYA4):c.1167G>A (p.Gly389=)
NM_004100.5(EYA4):c.1191+5_1191+8delinsTG
NM_004100.5(EYA4):c.119C>T (p.Thr40Ile)
NM_004100.5(EYA4):c.12C>T (p.Ser4=)
NM_004100.5(EYA4):c.131G>A (p.Gly44Asp) rs886039161
NM_004100.5(EYA4):c.137A>G (p.Asp46Gly) rs1439822731
NM_004100.5(EYA4):c.152C>T (p.Ser51Phe) rs542906126
NM_004100.5(EYA4):c.155A>C (p.Lys52Thr) rs763983145
NM_004100.5(EYA4):c.161A>T (p.Glu54Val)
NM_004100.5(EYA4):c.179G>T (p.Ser60Ile) rs886038799
NM_004100.5(EYA4):c.192T>C (p.Thr64=)
NM_004100.5(EYA4):c.202A>G (p.Thr68Ala)
NM_004100.5(EYA4):c.238G>A (p.Asp80Asn)
NM_004100.5(EYA4):c.251G>A (p.Ser84Asn) rs1215782368
NM_004100.5(EYA4):c.255C>T (p.Cys85=) rs2128626096
NM_004100.5(EYA4):c.304C>T (p.Pro102Ser)
NM_004100.5(EYA4):c.308T>C (p.Leu103Ser)
NM_004100.5(EYA4):c.315C>T (p.Ser105=)
NM_004100.5(EYA4):c.324C>G (p.Thr108=)
NM_004100.5(EYA4):c.33+5G>A
NM_004100.5(EYA4):c.365G>C (p.Gly122Ala)
NM_004100.5(EYA4):c.371-3C>T
NM_004100.5(EYA4):c.377C>G (p.Thr126Arg)
NM_004100.5(EYA4):c.37A>G (p.Lys13Glu)
NM_004100.5(EYA4):c.405A>G (p.Ala135=)
NM_004100.5(EYA4):c.439C>T (p.Pro147Ser)
NM_004100.5(EYA4):c.43A>G (p.Thr15Ala) rs1359824142
NM_004100.5(EYA4):c.458C>G (p.Ser153Cys) rs1554261941
NM_004100.5(EYA4):c.468A>T (p.Ala156=)
NM_004100.5(EYA4):c.494G>A (p.Gly165Asp) rs1794475262
NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)
NM_004100.5(EYA4):c.51A>G (p.Thr17=) rs1038991613
NM_004100.5(EYA4):c.528C>G (p.Ala176=)
NM_004100.5(EYA4):c.540C>T (p.Ala180=)
NM_004100.5(EYA4):c.546A>T (p.Ser182=)
NM_004100.5(EYA4):c.54A>G (p.Glu18=)
NM_004100.5(EYA4):c.590T>C (p.Val197Ala) rs1794499562
NM_004100.5(EYA4):c.625T>C (p.Ser209Pro)
NM_004100.5(EYA4):c.630A>G (p.Gln210=)
NM_004100.5(EYA4):c.633T>G (p.Thr211=) rs1794503381
NM_004100.5(EYA4):c.642A>G (p.Pro214=)
NM_004100.5(EYA4):c.700A>G (p.Thr234Ala)
NM_004100.5(EYA4):c.712T>C (p.Tyr238His)
NM_004100.5(EYA4):c.722C>T (p.Pro241Leu)
NM_004100.5(EYA4):c.749C>G (p.Thr250Ser)
NM_004100.5(EYA4):c.757G>A (p.Ala253Thr)
NM_004100.5(EYA4):c.768A>C (p.Ser256=)
NM_004100.5(EYA4):c.781A>G (p.Thr261Ala)
NM_004100.5(EYA4):c.782C>T (p.Thr261Met) rs959547878
NM_004100.5(EYA4):c.793G>A (p.Gly265Ser)
NM_004100.5(EYA4):c.803A>G (p.Gln268Arg)
NM_004100.5(EYA4):c.809A>G (p.Tyr270Cys) rs1048564742
NM_004100.5(EYA4):c.818A>G (p.Tyr273Cys)
NM_004100.5(EYA4):c.830G>A (p.Gly277Asp)
NM_004100.5(EYA4):c.84-4C>T
NM_004100.5(EYA4):c.84G>T (p.Arg28Ser)
NM_004100.5(EYA4):c.856T>G (p.Ser286Ala)
NM_004100.5(EYA4):c.867G>A (p.Thr289=) rs763899252
NM_004100.5(EYA4):c.874G>A (p.Ala292Thr) rs1195889018
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp) rs757252384
NM_004100.5(EYA4):c.923C>T (p.Ser308Phe)
NM_004100.5(EYA4):c.925A>G (p.Thr309Ala) rs556335059
NM_004100.5(EYA4):c.959C>T (p.Thr320Ile)
NM_004100.5(EYA4):c.961A>C (p.Asn321His) rs202049252
NM_004100.5(EYA4):c.966A>G (p.Gln322=) rs762696698
NM_004100.5(EYA4):c.969A>T (p.Pro323=)
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004100.5(EYA4):c.978C>T (p.Phe326=) rs773095472
NM_004100.5(EYA4):c.98A>C (p.Gln33Pro)
NM_004100.5(EYA4):c.991A>C (p.Ser331Arg)
NM_004100.5(EYA4):c.996C>T (p.Pro332=)

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.