ClinVar Miner

List of variants in gene EYA4 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 425
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.804+17T>C rs57845656 0.01673
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_004100.5(EYA4):c.111T>C (p.Ser37=) rs35863035 0.00620
NM_004100.5(EYA4):c.103C>T (p.Leu35=) rs35562371 0.00597
NM_004100.5(EYA4):c.804+16G>T rs13362743 0.00276
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_004100.5(EYA4):c.277+9G>A rs145320803 0.00072
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.970+16C>G rs201985955 0.00033
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004100.5(EYA4):c.83+6G>A rs200479266 0.00019
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr) rs146999911 0.00015
NM_004100.5(EYA4):c.725-15G>T rs151179883 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.971-8A>T rs761167268 0.00008
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_004100.5(EYA4):c.971-7T>C rs764351261 0.00007
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg) rs758076073 0.00006
NM_004100.5(EYA4):c.454C>G (p.Leu152Val) rs753705589 0.00006
NM_004100.5(EYA4):c.580+8A>C rs529080186 0.00006
NM_004100.5(EYA4):c.1107+13A>C rs775989680 0.00005
NM_004100.5(EYA4):c.278-4G>A rs201806127 0.00005
NM_004100.5(EYA4):c.182C>T (p.Thr61Ile) rs778473535 0.00004
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.1067G>A (p.Arg356Gln) rs762144530 0.00003
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.873A>T (p.Gly291=) rs761206775 0.00003
NM_004100.5(EYA4):c.955C>T (p.Leu319=) rs370874438 0.00003
NM_004100.5(EYA4):c.970+5A>G rs886061089 0.00003
NM_004100.5(EYA4):c.973G>A (p.Glu325Lys) rs1003638503 0.00003
NM_004100.5(EYA4):c.1058G>A (p.Gly353Glu) rs267600817 0.00002
NM_004100.5(EYA4):c.1107+10C>G rs752586864 0.00002
NM_004100.5(EYA4):c.1137C>T (p.Thr379=) rs151245774 0.00002
NM_004100.5(EYA4):c.1164C>T (p.Thr388=) rs763994459 0.00002
NM_004100.5(EYA4):c.158T>C (p.Leu53Pro) rs753371831 0.00002
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.233C>G (p.Thr78Arg) rs201644472 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.370+16C>T rs376239950 0.00002
NM_004100.5(EYA4):c.437+9del rs748093293 0.00002
NM_004100.5(EYA4):c.513G>A (p.Gly171=) rs776245355 0.00002
NM_004100.5(EYA4):c.523C>A (p.Pro175Thr) rs763350623 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.805-12T>C rs375862613 0.00002
NM_004100.5(EYA4):c.838C>A (p.Gln280Lys) rs202030718 0.00002
NM_004100.5(EYA4):c.861A>G (p.Ala287=) rs775461679 0.00002
NM_004100.5(EYA4):c.887C>T (p.Ser296Leu) rs755455584 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.971-6C>G rs369993979 0.00002
NM_004100.5(EYA4):c.1066C>G (p.Arg356Gly) rs776882781 0.00001
NM_004100.5(EYA4):c.1073A>G (p.Asn358Ser) rs1198001216 0.00001
NM_004100.5(EYA4):c.1078C>A (p.Pro360Thr) rs765773822 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.1095T>C (p.Asp365=) rs779806687 0.00001
NM_004100.5(EYA4):c.1107+4T>C rs1408725969 0.00001
NM_004100.5(EYA4):c.1108C>T (p.Arg370Cys) rs576607924 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_004100.5(EYA4):c.1191+12A>G rs746682236 0.00001
NM_004100.5(EYA4):c.208+3A>G rs1234788716 0.00001
NM_004100.5(EYA4):c.213A>C (p.Glu71Asp) rs200042576 0.00001
NM_004100.5(EYA4):c.222T>A (p.Thr74=) rs1458388711 0.00001
NM_004100.5(EYA4):c.260C>T (p.Thr87Ile) rs753132753 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.306C>G (p.Pro102=) rs778265878 0.00001
NM_004100.5(EYA4):c.33+19T>C rs772392856 0.00001
NM_004100.5(EYA4):c.33A>G (p.Ser11=) rs143613363 0.00001
NM_004100.5(EYA4):c.34-16T>C rs373611331 0.00001
NM_004100.5(EYA4):c.349C>T (p.Leu117Phe) rs1044216762 0.00001
NM_004100.5(EYA4):c.39G>C (p.Lys13Asn) rs758104829 0.00001
NM_004100.5(EYA4):c.407A>G (p.His136Arg) rs751662203 0.00001
NM_004100.5(EYA4):c.410A>G (p.Gln137Arg) rs754993172 0.00001
NM_004100.5(EYA4):c.438-15T>C rs752763979 0.00001
NM_004100.5(EYA4):c.447A>C (p.Pro149=) rs1794470384 0.00001
NM_004100.5(EYA4):c.44C>T (p.Thr15Met) rs769070323 0.00001
NM_004100.5(EYA4):c.45G>A (p.Thr15=) rs145724851 0.00001
NM_004100.5(EYA4):c.463C>T (p.Pro155Ser) rs543278630 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.512G>T (p.Gly171Val) rs1157191952 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.580G>A (p.Asp194Asn) rs1199874172 0.00001
NM_004100.5(EYA4):c.585G>C (p.Leu195Phe) rs1794498749 0.00001
NM_004100.5(EYA4):c.586G>T (p.Gly196Cys) rs764258439 0.00001
NM_004100.5(EYA4):c.59A>G (p.Asp20Gly) rs779385322 0.00001
NM_004100.5(EYA4):c.601G>A (p.Ala201Thr) rs765515937 0.00001
NM_004100.5(EYA4):c.623T>C (p.Leu208Pro) rs2060740628 0.00001
NM_004100.5(EYA4):c.668G>C (p.Ser223Thr) rs1468256328 0.00001
NM_004100.5(EYA4):c.672A>G (p.Pro224=) rs777434048 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.698A>G (p.Gln233Arg) rs776882909 0.00001
NM_004100.5(EYA4):c.69A>G (p.Gln23=) rs1356813658 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.770T>C (p.Val257Ala) rs1794706639 0.00001
NM_004100.5(EYA4):c.790A>G (p.Ser264Gly) rs1392356186 0.00001
NM_004100.5(EYA4):c.807T>C (p.Asp269=) rs1795046144 0.00001
NM_004100.5(EYA4):c.811C>G (p.Pro271Ala) rs752023028 0.00001
NM_004100.5(EYA4):c.83+5A>G rs1060502995 0.00001
NM_004100.5(EYA4):c.840G>A (p.Gln280=) rs1795049846 0.00001
NM_004100.5(EYA4):c.875C>T (p.Ala292Val) rs764985361 0.00001
NM_004100.5(EYA4):c.876G>A (p.Ala292=) rs750099139 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.900C>T (p.Ala300=) rs1053782342 0.00001
NM_004100.5(EYA4):c.901G>A (p.Asp301Asn) rs779172192 0.00001
NM_004100.5(EYA4):c.918A>G (p.Ser306=) rs1795058293 0.00001
NM_004100.5(EYA4):c.919A>G (p.Thr307Ala) rs1289099998 0.00001
NM_004100.5(EYA4):c.949C>T (p.Pro317Ser) rs1554263071 0.00001
NM_004100.5(EYA4):c.970+6G>T rs753123820 0.00001
NC_000006.11:g.(?_133595919)_(133595971_?)dup
NC_000006.11:g.(?_133782232)_(133783922_?)del
NC_000006.12:g.(?_133446610)_(133483135_?)del
NC_000006.12:g.(?_133525015)_(133528805_?)del
NM_004100.5(EYA4):c.1010A>G (p.Lys337Arg) rs755172395
NM_004100.5(EYA4):c.1020T>A (p.Asp340Glu)
NM_004100.5(EYA4):c.1029C>T (p.Thr343=)
NM_004100.5(EYA4):c.1031G>A (p.Cys344Tyr) rs2128707567
NM_004100.5(EYA4):c.103C>G (p.Leu35Val) rs35562371
NM_004100.5(EYA4):c.1042G>A (p.Gly348Arg)
NM_004100.5(EYA4):c.1042G>C (p.Gly348Arg) rs1279116848
NM_004100.5(EYA4):c.1043G>A (p.Gly348Glu) rs2128707600
NM_004100.5(EYA4):c.1064G>A (p.Gly355Asp)
NM_004100.5(EYA4):c.1065C>A (p.Gly355=)
NM_004100.5(EYA4):c.1066C>T (p.Arg356Trp)
NM_004100.5(EYA4):c.1086G>A (p.Pro362=)
NM_004100.5(EYA4):c.1095T>G (p.Asp365Glu) rs779806687
NM_004100.5(EYA4):c.1096A>G (p.Ser366Gly) rs1562471411
NM_004100.5(EYA4):c.1107+11T>C
NM_004100.5(EYA4):c.1107+12C>T
NM_004100.5(EYA4):c.1107+16C>A
NM_004100.5(EYA4):c.1107+16C>G
NM_004100.5(EYA4):c.1107+19A>T rs1562471490
NM_004100.5(EYA4):c.1107+7C>G rs1377200434
NM_004100.5(EYA4):c.1108-13T>G
NM_004100.5(EYA4):c.1108-19dup
NM_004100.5(EYA4):c.110G>A (p.Ser37Asn)
NM_004100.5(EYA4):c.1134A>T (p.Glu378Asp) rs2128711218
NM_004100.5(EYA4):c.1144G>C (p.Val382Leu)
NM_004100.5(EYA4):c.1156C>T (p.Leu386=)
NM_004100.5(EYA4):c.1165G>A (p.Gly389Arg)
NM_004100.5(EYA4):c.1167G>A (p.Gly389=)
NM_004100.5(EYA4):c.116A>G (p.His39Arg)
NM_004100.5(EYA4):c.1173T>C (p.Tyr391=)
NM_004100.5(EYA4):c.1191+18_1191+20dup
NM_004100.5(EYA4):c.1191+4_1191+5insT
NM_004100.5(EYA4):c.1191+6_1191+8del
NM_004100.5(EYA4):c.119C>T (p.Thr40Ile)
NM_004100.5(EYA4):c.121C>A (p.Leu41Ile)
NM_004100.5(EYA4):c.136G>C (p.Asp46His)
NM_004100.5(EYA4):c.137A>G (p.Asp46Gly) rs1439822731
NM_004100.5(EYA4):c.141T>G (p.Thr47=)
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.155A>G (p.Lys52Arg)
NM_004100.5(EYA4):c.156A>G (p.Lys52=)
NM_004100.5(EYA4):c.161A>T (p.Glu54Val)
NM_004100.5(EYA4):c.172C>A (p.Leu58Ile) rs1562431794
NM_004100.5(EYA4):c.190_191insAAA (p.Val63_Thr64insLys)
NM_004100.5(EYA4):c.197A>G (p.Asn66Ser) rs1792883329
NM_004100.5(EYA4):c.204A>G (p.Thr68=) rs2128623032
NM_004100.5(EYA4):c.208+10C>T
NM_004100.5(EYA4):c.208+12A>T
NM_004100.5(EYA4):c.208+14C>A
NM_004100.5(EYA4):c.208+7G>A rs1792885399
NM_004100.5(EYA4):c.208+7G>T rs1792885399
NM_004100.5(EYA4):c.209-10C>A rs1562433382
NM_004100.5(EYA4):c.209-14G>C rs2128625875
NM_004100.5(EYA4):c.209-1G>A rs1441151762
NM_004100.5(EYA4):c.211G>T (p.Glu71Ter)
NM_004100.5(EYA4):c.215A>G (p.Asn72Ser) rs200688814
NM_004100.5(EYA4):c.218T>A (p.Met73Lys)
NM_004100.5(EYA4):c.221C>G (p.Thr74Ser)
NM_004100.5(EYA4):c.221C>T (p.Thr74Ile) rs2128625983
NM_004100.5(EYA4):c.223G>C (p.Val75Leu) rs1793039802
NM_004100.5(EYA4):c.223_224del (p.Val75fs)
NM_004100.5(EYA4):c.235G>A (p.Ala79Thr)
NM_004100.5(EYA4):c.237A>G (p.Ala79=) rs727504840
NM_004100.5(EYA4):c.23A>G (p.Asn8Ser)
NM_004100.5(EYA4):c.242G>A (p.Trp81Ter)
NM_004100.5(EYA4):c.243G>C (p.Trp81Cys) rs2128626064
NM_004100.5(EYA4):c.24T>G (p.Asn8Lys)
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.257A>G (p.Asn86Ser) rs779810823
NM_004100.5(EYA4):c.261C>T (p.Thr87=)
NM_004100.5(EYA4):c.262C>A (p.Pro88Thr)
NM_004100.5(EYA4):c.263C>T (p.Pro88Leu)
NM_004100.5(EYA4):c.26A>C (p.Glu9Ala) rs1191543342
NM_004100.5(EYA4):c.277+10A>G
NM_004100.5(EYA4):c.277+11T>A rs1315418407
NM_004100.5(EYA4):c.277+1G>A
NM_004100.5(EYA4):c.277+3A>G rs1583306088
NM_004100.5(EYA4):c.278-18A>C
NM_004100.5(EYA4):c.278-20G>A
NM_004100.5(EYA4):c.278-5C>T
NM_004100.5(EYA4):c.278T>C (p.Met93Thr) rs1344229695
NM_004100.5(EYA4):c.281C>A (p.Ser94Tyr) rs2128644139
NM_004100.5(EYA4):c.290C>G (p.Ala97Gly)
NM_004100.5(EYA4):c.304C>G (p.Pro102Ala)
NM_004100.5(EYA4):c.30A>G (p.Gln10=) rs1060502996
NM_004100.5(EYA4):c.313A>C (p.Ser105Arg) rs1060502994
NM_004100.5(EYA4):c.314G>A (p.Ser105Asn) rs2128644229
NM_004100.5(EYA4):c.315C>T (p.Ser105=)
NM_004100.5(EYA4):c.319G>A (p.Glu107Lys) rs1793927066
NM_004100.5(EYA4):c.329C>T (p.Ala110Val)
NM_004100.5(EYA4):c.32C>T (p.Ser11Leu) rs1394230343
NM_004100.5(EYA4):c.33+11A>C rs1777030773
NM_004100.5(EYA4):c.33+12T>C rs759940308
NM_004100.5(EYA4):c.33+2T>G rs2128268726
NM_004100.5(EYA4):c.33+5G>C rs1777030034
NM_004100.5(EYA4):c.332C>T (p.Thr111Met) rs772111281
NM_004100.5(EYA4):c.333G>A (p.Thr111=)
NM_004100.5(EYA4):c.336T>G (p.Thr112=)
NM_004100.5(EYA4):c.338G>C (p.Gly113Ala)
NM_004100.5(EYA4):c.34-17G>C
NM_004100.5(EYA4):c.342T>C (p.Asp114=)
NM_004100.5(EYA4):c.348G>C (p.Ala116=) rs373496105
NM_004100.5(EYA4):c.354C>T (p.Asp118=)
NM_004100.5(EYA4):c.363T>C (p.Thr121=)
NM_004100.5(EYA4):c.36A>G (p.Val12=) rs2128480628
NM_004100.5(EYA4):c.370+17G>A
NM_004100.5(EYA4):c.370+17G>C
NM_004100.5(EYA4):c.370+1G>T
NM_004100.5(EYA4):c.371-11G>A
NM_004100.5(EYA4):c.371-17A>G rs749224573
NM_004100.5(EYA4):c.371-2A>G
NM_004100.5(EYA4):c.374T>C (p.Ile125Thr) rs770929581
NM_004100.5(EYA4):c.377C>G (p.Thr126Arg)
NM_004100.5(EYA4):c.37A>G (p.Lys13Glu)
NM_004100.5(EYA4):c.386G>T (p.Gly129Val) rs1554261713
NM_004100.5(EYA4):c.38A>G (p.Lys13Arg)
NM_004100.5(EYA4):c.394C>A (p.Pro132Thr)
NM_004100.5(EYA4):c.396C>T (p.Pro132=)
NM_004100.5(EYA4):c.413A>G (p.Tyr138Cys) rs1794347562
NM_004100.5(EYA4):c.424C>T (p.Leu142=)
NM_004100.5(EYA4):c.428A>G (p.Tyr143Cys) rs749021618
NM_004100.5(EYA4):c.437+11A>G
NM_004100.5(EYA4):c.437+14A>G
NM_004100.5(EYA4):c.437+3A>G
NM_004100.5(EYA4):c.437+7G>C
NM_004100.5(EYA4):c.437A>G (p.Lys146Arg) rs2128655388
NM_004100.5(EYA4):c.438-14T>C
NM_004100.5(EYA4):c.438-17A>G
NM_004100.5(EYA4):c.438-8A>G rs1794468551
NM_004100.5(EYA4):c.438G>T (p.Lys146Asn) rs2128658396
NM_004100.5(EYA4):c.43A>G (p.Thr15Ala) rs1359824142
NM_004100.5(EYA4):c.443A>T (p.Tyr148Phe) rs939001947
NM_004100.5(EYA4):c.44C>A (p.Thr15Lys) rs769070323
NM_004100.5(EYA4):c.44C>G (p.Thr15Arg)
NM_004100.5(EYA4):c.452T>C (p.Ile151Thr) rs2128658440
NM_004100.5(EYA4):c.458C>G (p.Ser153Cys) rs1554261941
NM_004100.5(EYA4):c.468A>T (p.Ala156=)
NM_004100.5(EYA4):c.488A>G (p.Tyr163Cys)
NM_004100.5(EYA4):c.489T>C (p.Tyr163=)
NM_004100.5(EYA4):c.493G>A (p.Gly165Ser)
NM_004100.5(EYA4):c.494G>A (p.Gly165Asp) rs1794475262
NM_004100.5(EYA4):c.498G>A (p.Gln166=)
NM_004100.5(EYA4):c.506A>G (p.Tyr169Cys) rs2128658614
NM_004100.5(EYA4):c.510G>A (p.Ser170=)
NM_004100.5(EYA4):c.510G>T (p.Ser170=)
NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)
NM_004100.5(EYA4):c.51A>G (p.Thr17=) rs1038991613
NM_004100.5(EYA4):c.531C>G (p.Val177=)
NM_004100.5(EYA4):c.542A>G (p.Tyr181Cys)
NM_004100.5(EYA4):c.546A>T (p.Ser182=)
NM_004100.5(EYA4):c.549G>T (p.Gln183His) rs267600815
NM_004100.5(EYA4):c.558G>A (p.Gln186=)
NM_004100.5(EYA4):c.561C>T (p.Pro187=)
NM_004100.5(EYA4):c.565A>G (p.Ser189Gly)
NM_004100.5(EYA4):c.566G>T (p.Ser189Ile) rs760755612
NM_004100.5(EYA4):c.574A>G (p.Thr192Ala)
NM_004100.5(EYA4):c.578A>G (p.Tyr193Cys)
NM_004100.5(EYA4):c.579C>G (p.Tyr193Ter)
NM_004100.5(EYA4):c.580+14_580+16del rs139659489
NM_004100.5(EYA4):c.580+15_580+16del
NM_004100.5(EYA4):c.580+17G>A
NM_004100.5(EYA4):c.580+4T>C
NM_004100.5(EYA4):c.580+5T>G
NM_004100.5(EYA4):c.580+9C>T rs1794485545
NM_004100.5(EYA4):c.581-7T>C
NM_004100.5(EYA4):c.583T>C (p.Leu195=)
NM_004100.5(EYA4):c.587G>A (p.Gly196Asp) rs776796938
NM_004100.5(EYA4):c.587G>C (p.Gly196Ala)
NM_004100.5(EYA4):c.590T>C (p.Val197Ala) rs1794499562
NM_004100.5(EYA4):c.609G>A (p.Lys203=) rs1794500966
NM_004100.5(EYA4):c.615G>A (p.Glu205=) rs2128659307
NM_004100.5(EYA4):c.619G>A (p.Gly207Arg) rs1794501902
NM_004100.5(EYA4):c.61del (p.Val21fs)
NM_004100.5(EYA4):c.625T>C (p.Ser209Pro)
NM_004100.5(EYA4):c.62T>G (p.Val21Gly) rs1786300577
NM_004100.5(EYA4):c.630A>G (p.Gln210=)
NM_004100.5(EYA4):c.633T>G (p.Thr211=) rs1794503381
NM_004100.5(EYA4):c.638C>A (p.Ser213Tyr)
NM_004100.5(EYA4):c.641C>A (p.Pro214Gln) rs878854624
NM_004100.5(EYA4):c.642A>G (p.Pro214=)
NM_004100.5(EYA4):c.652G>T (p.Gly218Cys)
NM_004100.5(EYA4):c.666C>T (p.Tyr222=)
NM_004100.5(EYA4):c.667A>G (p.Ser223Gly) rs2128659458
NM_004100.5(EYA4):c.66A>G (p.Ser22=) rs2128480683
NM_004100.5(EYA4):c.67C>T (p.Gln23Ter) rs1293420539
NM_004100.5(EYA4):c.680C>T (p.Ser227Phe)
NM_004100.5(EYA4):c.686C>A (p.Pro229Gln)
NM_004100.5(EYA4):c.686C>T (p.Pro229Leu) rs769220102
NM_004100.5(EYA4):c.687A>G (p.Pro229=)
NM_004100.5(EYA4):c.690G>C (p.Gln230His)
NM_004100.5(EYA4):c.695G>T (p.Gly232Val)
NM_004100.5(EYA4):c.699G>A (p.Gln233=)
NM_004100.5(EYA4):c.701C>T (p.Thr234Ile)
NM_004100.5(EYA4):c.706T>C (p.Tyr236His)
NM_004100.5(EYA4):c.711T>C (p.Ser237=) rs1554262053
NM_004100.5(EYA4):c.712T>C (p.Tyr238His)
NM_004100.5(EYA4):c.715C>G (p.Gln239Glu) rs2128659661
NM_004100.5(EYA4):c.724+15A>G
NM_004100.5(EYA4):c.724+9C>G
NM_004100.5(EYA4):c.724G>A (p.Gly242Ser)
NM_004100.5(EYA4):c.725-14T>C
NM_004100.5(EYA4):c.725-19A>C
NM_004100.5(EYA4):c.725-19A>G rs751251924
NM_004100.5(EYA4):c.725-9del rs776867589
NM_004100.5(EYA4):c.729T>C (p.Ser243=) rs1794703368
NM_004100.5(EYA4):c.735T>C (p.Phe245=) rs1794703788
NM_004100.5(EYA4):c.740C>G (p.Pro247Arg)
NM_004100.5(EYA4):c.744A>G (p.Ser248=) rs397516879
NM_004100.5(EYA4):c.749C>G (p.Thr250Ser)
NM_004100.5(EYA4):c.757G>A (p.Ala253Thr)
NM_004100.5(EYA4):c.75G>A (p.Gln25=)
NM_004100.5(EYA4):c.764A>G (p.Asn255Ser)
NM_004100.5(EYA4):c.781A>G (p.Thr261Ala)
NM_004100.5(EYA4):c.782C>G (p.Thr261Arg)
NM_004100.5(EYA4):c.782C>T (p.Thr261Met) rs959547878
NM_004100.5(EYA4):c.793G>A (p.Gly265Ser)
NM_004100.5(EYA4):c.7G>A (p.Asp3Asn)
NM_004100.5(EYA4):c.806A>T (p.Asp269Val) rs1562457061
NM_004100.5(EYA4):c.809A>G (p.Tyr270Cys) rs1048564742
NM_004100.5(EYA4):c.818A>C (p.Tyr273Ser)
NM_004100.5(EYA4):c.824C>A (p.Ala275Asp)
NM_004100.5(EYA4):c.824C>T (p.Ala275Val) rs748654006
NM_004100.5(EYA4):c.83+11A>T
NM_004100.5(EYA4):c.83+20A>G
NM_004100.5(EYA4):c.83+21del
NM_004100.5(EYA4):c.83+6G>C rs200479266
NM_004100.5(EYA4):c.83+6G>T
NM_004100.5(EYA4):c.832C>T (p.Gln278Ter) rs2128674457
NM_004100.5(EYA4):c.84-9C>G
NM_004100.5(EYA4):c.842A>T (p.Tyr281Phe) rs558399007
NM_004100.5(EYA4):c.843T>C (p.Tyr281=)
NM_004100.5(EYA4):c.865A>C (p.Thr289Pro)
NM_004100.5(EYA4):c.867G>A (p.Thr289=) rs763899252
NM_004100.5(EYA4):c.869A>G (p.Tyr290Cys) rs1795052577
NM_004100.5(EYA4):c.86C>G (p.Ser29Cys)
NM_004100.5(EYA4):c.872G>A (p.Gly291Glu)
NM_004100.5(EYA4):c.874G>A (p.Ala292Thr) rs1195889018
NM_004100.5(EYA4):c.875C>G (p.Ala292Gly)
NM_004100.5(EYA4):c.876G>C (p.Ala292=) rs750099139
NM_004100.5(EYA4):c.884C>T (p.Thr295Ile)
NM_004100.5(EYA4):c.88A>C (p.Met30Leu) rs1026869914
NM_004100.5(EYA4):c.893A>C (p.Asn298Thr)
NM_004100.5(EYA4):c.898G>T (p.Ala300Ser) rs1795055897
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp) rs757252384
NM_004100.5(EYA4):c.899C>T (p.Ala300Val) rs757252384
NM_004100.5(EYA4):c.89T>G (p.Met30Arg)
NM_004100.5(EYA4):c.902A>G (p.Asp301Gly)
NM_004100.5(EYA4):c.914C>T (p.Ser305Phe) rs1795057880
NM_004100.5(EYA4):c.920C>A (p.Thr307Asn)
NM_004100.5(EYA4):c.921C>G (p.Thr307=)
NM_004100.5(EYA4):c.923C>G (p.Ser308Cys)
NM_004100.5(EYA4):c.925A>G (p.Thr309Ala) rs556335059
NM_004100.5(EYA4):c.929A>G (p.Tyr310Cys)
NM_004100.5(EYA4):c.929A>T (p.Tyr310Phe)
NM_004100.5(EYA4):c.930T>C (p.Tyr310=)
NM_004100.5(EYA4):c.943T>A (p.Ser315Thr)
NM_004100.5(EYA4):c.949C>G (p.Pro317Ala) rs1554263071
NM_004100.5(EYA4):c.951A>C (p.Pro317=) rs1060504783
NM_004100.5(EYA4):c.955C>G (p.Leu319Val) rs370874438
NM_004100.5(EYA4):c.961A>C (p.Asn321His) rs202049252
NM_004100.5(EYA4):c.963C>A (p.Asn321Lys)
NM_004100.5(EYA4):c.966A>G (p.Gln322=) rs762696698
NM_004100.5(EYA4):c.966A>T (p.Gln322His)
NM_004100.5(EYA4):c.969A>T (p.Pro323=)
NM_004100.5(EYA4):c.970+10T>C
NM_004100.5(EYA4):c.970+12C>T
NM_004100.5(EYA4):c.970+1G>A rs2128674984
NM_004100.5(EYA4):c.970+1G>T rs2128674984
NM_004100.5(EYA4):c.970+3A>G rs1358062338
NM_004100.5(EYA4):c.970+6del
NM_004100.5(EYA4):c.970+8T>A rs2128675040
NM_004100.5(EYA4):c.970+9C>G rs756408633
NM_004100.5(EYA4):c.971-2A>G rs1562470903
NM_004100.5(EYA4):c.971-6C>T rs369993979
NM_004100.5(EYA4):c.974A>C (p.Glu325Ala)
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.979G>C (p.Asp327His) rs144415484
NM_004100.5(EYA4):c.983C>T (p.Thr328Ile) rs897811426
NM_004100.5(EYA4):c.984C>A (p.Thr328=)
NM_004100.5(EYA4):c.984C>T (p.Thr328=) rs1005575118
NM_004100.5(EYA4):c.985A>T (p.Met329Leu)
NM_004100.5(EYA4):c.98A>C (p.Gln33Pro)
NM_004100.5(EYA4):c.994C>T (p.Pro332Ser) rs1583410927
NM_004100.5(EYA4):c.995C>T (p.Pro332Leu)

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.