ClinVar Miner

List of variants in gene EYA4 reported as uncertain significance for Cardiovascular phenotype

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
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.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg) rs758076073 0.00006
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.16G>A (p.Asp6Asn) rs1253239225 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.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.550A>G (p.Thr184Ala) rs886039203 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.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.1109G>A (p.Arg370His) rs143936434 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.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.683C>T (p.Thr228Ile) rs747533734 0.00001
NM_004100.5(EYA4):c.707A>G (p.Tyr236Cys) rs1060502993 0.00001
NM_004100.5(EYA4):c.790A>G (p.Ser264Gly) rs1392356186 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.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.1191+5_1191+8delinsTG
NM_004100.5(EYA4):c.119C>T (p.Thr40Ile)
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.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.304C>T (p.Pro102Ser)
NM_004100.5(EYA4):c.308T>C (p.Leu103Ser)
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.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.494G>A (p.Gly165Asp) rs1794475262
NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)
NM_004100.5(EYA4):c.590T>C (p.Val197Ala) rs1794499562
NM_004100.5(EYA4):c.625T>C (p.Ser209Pro)
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.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.84G>T (p.Arg28Ser)
NM_004100.5(EYA4):c.856T>G (p.Ser286Ala)
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.959C>T (p.Thr320Ile)
NM_004100.5(EYA4):c.961A>C (p.Asn321His) rs202049252
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004100.5(EYA4):c.98A>C (p.Gln33Pro)
NM_004100.5(EYA4):c.991A>C (p.Ser331Arg)

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