ClinVar Miner

List of variants in gene EYA1 studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP
EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC
EYA1, 1-BP INS, 387T
EYA1, ALU INS, EX10
NC_000008.10:g.(?_72111555)_(72268741_?)del
NC_000008.10:g.(?_72156818)_(72234523_?)del
NM_000503.5(EYA1):c.*1914T>G rs112480709
NM_000503.6(EYA1):c.*1135_*1138dup rs886063085
NM_000503.6(EYA1):c.*117G>A rs886063087
NM_000503.6(EYA1):c.*1217_*1219TTA[1] rs574723016
NM_000503.6(EYA1):c.*1222A>C rs117394899
NM_000503.6(EYA1):c.*1263C>T rs140308724
NM_000503.6(EYA1):c.*1275G>A rs192113669
NM_000503.6(EYA1):c.*1310G>A rs147323889
NM_000503.6(EYA1):c.*1324T>C rs56115941
NM_000503.6(EYA1):c.*1372_*1375dup rs142792208
NM_000503.6(EYA1):c.*1561_*1564ATCA[3] rs553875263
NM_000503.6(EYA1):c.*1581G>A rs9298163
NM_000503.6(EYA1):c.*1598A>C rs886063084
NM_000503.6(EYA1):c.*1672T>A rs777991930
NM_000503.6(EYA1):c.*1890A>G rs377092983
NM_000503.6(EYA1):c.*23G>A rs373876510
NM_000503.6(EYA1):c.*353C>T rs151172668
NM_000503.6(EYA1):c.*442G>A rs767388665
NM_000503.6(EYA1):c.*509_*512del rs146202037
NM_000503.6(EYA1):c.*545C>T rs886063086
NM_000503.6(EYA1):c.*705G>T rs79700717
NM_000503.6(EYA1):c.*770_*773dup rs371488223
NM_000503.6(EYA1):c.*784T>C rs77243350
NM_000503.6(EYA1):c.*800T>C rs74862574
NM_000503.6(EYA1):c.*848G>A rs775498240
NM_000503.6(EYA1):c.*86C>A rs186838732
NM_000503.6(EYA1):c.*901dup rs570995924
NM_000503.6(EYA1):c.-155G>A rs886063090
NM_000503.6(EYA1):c.-173G>T rs886063091
NM_000503.6(EYA1):c.-191C>G rs55694100
NM_000503.6(EYA1):c.-192G>A rs886063092
NM_000503.6(EYA1):c.-242T>G rs886063093
NM_000503.6(EYA1):c.-263C>T rs146081509
NM_000503.6(EYA1):c.-271G>A rs73684755
NM_000503.6(EYA1):c.-326G>T rs551597748
NM_000503.6(EYA1):c.-340G>T rs55997623
NM_000503.6(EYA1):c.-429G>A rs886063094
NM_000503.6(EYA1):c.-454G>A rs569684779
NM_000503.6(EYA1):c.-47C>A rs760164698
NM_000503.6(EYA1):c.-49A>G rs773963094
NM_000503.6(EYA1):c.-75G>C rs558296770
NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs) rs1554615536
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1140+4_1140+7del rs1554605968
NM_000503.6(EYA1):c.1141-15T>G rs186249248
NM_000503.6(EYA1):c.1200-11C>A rs181457812
NM_000503.6(EYA1):c.1200-1G>A rs1563634200
NM_000503.6(EYA1):c.121G>C (p.Glu41Gln) rs561111097
NM_000503.6(EYA1):c.1258T>C (p.Leu420=) rs200074362
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1327_1328GA[1] (p.Glu443fs) rs1554596461
NM_000503.6(EYA1):c.1354_1355del (p.Val452fs)
NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs)
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) rs121909200
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000503.6(EYA1):c.1475+15G>A rs373917012
NM_000503.6(EYA1):c.1514T>G (p.Leu505Arg) rs121909201
NM_000503.6(EYA1):c.1523C>T (p.Ala508Val)
NM_000503.6(EYA1):c.159T>C (p.Ala53=) rs768443449
NM_000503.6(EYA1):c.1609T>C (p.Cys537Arg) rs1554594182
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter) rs1060499603
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219
NM_000503.6(EYA1):c.1654_1656GTT[1] (p.Val553del) rs1563621870
NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter) rs1481254965
NM_000503.6(EYA1):c.1695_1698del (p.Lys565fs) rs606231355
NM_000503.6(EYA1):c.1699-3C>T rs117149407
NM_000503.6(EYA1):c.1699-8T>C rs201537030
NM_000503.6(EYA1):c.1701C>T (p.His567=) rs763080811
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg)
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397
NM_000503.6(EYA1):c.196G>T (p.Gly66Cys) rs886063089
NM_000503.6(EYA1):c.203-15G>T rs772006212
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773
NM_000503.6(EYA1):c.299C>A (p.Thr100Asn) rs373501480
NM_000503.6(EYA1):c.325T>C (p.Tyr109His) rs141779040
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629
NM_000503.6(EYA1):c.418+3G>C rs1554550269
NM_000503.6(EYA1):c.532del (p.Ala178fs) rs1554548840
NM_000503.6(EYA1):c.556+5G>C rs886063088
NM_000503.6(EYA1):c.557-12A>G rs373445545
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404
NM_000503.6(EYA1):c.630T>C (p.Ser210=) rs373102227
NM_000503.6(EYA1):c.640-15_698del rs1554541834
NM_000503.6(EYA1):c.648G>A (p.Pro216=) rs148973681
NM_000503.6(EYA1):c.671G>T (p.Gly224Val) rs201509408
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) rs1563422304
NM_000503.6(EYA1):c.743C>T (p.Thr248Met) rs186736708
NM_000503.6(EYA1):c.744G>A (p.Thr248=) rs10098224
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059
NM_000503.6(EYA1):c.783G>A (p.Pro261=) rs146648560
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742
NM_000503.6(EYA1):c.966+4C>T rs139429307
NM_000503.6(EYA1):c.966+5G>A rs606231357
NM_172059.5(EYA1):c.34-5589A>G rs886063095
NM_172059.5(EYA1):c.34-5644_34-5643del rs886063096
NM_172059.5(EYA1):c.34-5646_34-5645del rs35320129
NM_172059.5(EYA1):c.34-5669_34-5668dup rs35320129
NM_172059.5(EYA1):c.34-5670C>A rs886063099
NM_172059.5(EYA1):c.34-5671C>A rs886063100

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