ClinVar Miner

List of variants in gene EYA1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 181
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.639+39T>G rs3779747 0.39091
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397 0.35033
NM_000503.6(EYA1):c.1699-23A>G rs10090382 0.34966
NM_000503.6(EYA1):c.1699-84C>G rs10103852 0.34874
NM_000503.6(EYA1):c.1597+59C>T rs7846086 0.30943
NM_000503.6(EYA1):c.1476-21G>T rs3735935 0.30839
NM_000503.6(EYA1):c.1360+53C>T rs4737312 0.29944
NM_000503.6(EYA1):c.-4-297T>C rs1838621 0.27665
NM_000503.6(EYA1):c.418+225T>C rs7008755 0.26477
NM_000503.6(EYA1):c.1050+113G>A rs2053664 0.26106
NM_000503.6(EYA1):c.1699-55G>A rs10103644 0.20964
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118 0.13734
NM_000503.6(EYA1):c.1597+60G>A rs79867447 0.12646
NM_000503.6(EYA1):c.125-169T>C rs7840881 0.11230
NM_000503.6(EYA1):c.557-226T>C rs9657098 0.10496
NM_000503.6(EYA1):c.1050+107A>G rs76660214 0.09160
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398 0.08547
NM_000503.6(EYA1):c.125-258A>G rs7824978 0.08465
NM_000503.6(EYA1):c.826+244C>G rs13278037 0.06965
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404 0.05809
NM_000503.6(EYA1):c.1698+133A>G rs76599768 0.03939
NM_000503.6(EYA1):c.1698+344C>T rs79178549 0.03606
NM_000503.6(EYA1):c.827-104A>G rs111229114 0.03337
NM_000503.6(EYA1):c.418+102C>T rs75142065 0.02732
NM_000503.6(EYA1):c.419-273A>G rs79359169 0.02695
NM_000503.6(EYA1):c.1597+18T>C rs76259565 0.02609
NM_000503.6(EYA1):c.557-54C>T rs74879112 0.01902
NM_000503.6(EYA1):c.124+198A>C rs77946035 0.01859
NM_000503.6(EYA1):c.125-31C>T rs113812295 0.01842
NM_000503.6(EYA1):c.1050+28A>C rs7835813 0.01721
NM_000503.6(EYA1):c.1699-3C>T rs117149407 0.01158
NM_000503.6(EYA1):c.-4-284C>G rs76548836 0.01018
NM_000503.6(EYA1):c.124+225A>G rs118159749 0.00764
NM_000503.6(EYA1):c.1361-267C>T rs75160077 0.00641
NM_000503.6(EYA1):c.*102T>G rs139109847 0.00616
NM_000503.6(EYA1):c.418+34C>T rs113993220 0.00561
NM_000503.6(EYA1):c.1140+69A>G rs112153708 0.00525
NM_000503.6(EYA1):c.-54-314A>G rs12115159 0.00374
NM_000503.6(EYA1):c.966+250A>G rs73684736 0.00342
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_000503.6(EYA1):c.557-28A>G rs189521186 0.00262
NM_000503.6(EYA1):c.1200-11C>A rs181457812 0.00176
NM_000503.6(EYA1):c.*429T>C rs192602787 0.00165
NM_000503.6(EYA1):c.321T>C (p.Ala107=) rs112282055 0.00162
NM_000503.6(EYA1):c.1141-15T>G rs186249248 0.00103
NM_000503.6(EYA1):c.*23G>A rs373876510 0.00086
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059 0.00069
NM_000503.6(EYA1):c.648G>A (p.Pro216=) rs148973681 0.00067
NM_000503.6(EYA1):c.1050+66T>G rs2305096 0.00058
NM_000503.6(EYA1):c.557-11T>A rs201752432 0.00056
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_000503.6(EYA1):c.884T>C (p.Leu295Ser) rs146687496 0.00041
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219 0.00023
NM_000503.6(EYA1):c.*9G>A rs370353759 0.00019
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) rs372488542 0.00016
NM_000503.6(EYA1):c.174C>T (p.Asp58=) rs370509332 0.00014
NM_000503.6(EYA1):c.887G>A (p.Arg296His) rs181191349 0.00014
NM_000503.6(EYA1):c.783G>A (p.Pro261=) rs146648560 0.00013
NM_000503.6(EYA1):c.325T>C (p.Tyr109His) rs141779040 0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000503.6(EYA1):c.1377T>A (p.Ala459=) rs112593082 0.00007
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933 0.00007
NM_000503.6(EYA1):c.639+17G>C rs199791692 0.00006
NM_000503.6(EYA1):c.671G>T (p.Gly224Val) rs201509408 0.00006
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_000503.6(EYA1):c.419-10A>G rs371502049 0.00004
NM_000503.6(EYA1):c.678C>T (p.Tyr226=) rs529483320 0.00004
NM_000503.6(EYA1):c.112A>G (p.Asn38Asp) rs765646278 0.00003
NM_000503.6(EYA1):c.125-13T>C rs753263675 0.00003
NM_000503.6(EYA1):c.175G>A (p.Gly59Arg) rs146216506 0.00003
NM_000503.6(EYA1):c.630T>C (p.Ser210=) rs373102227 0.00003
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu) rs766713665 0.00002
NM_000503.6(EYA1):c.287A>G (p.His96Arg) rs377434964 0.00002
NM_000503.6(EYA1):c.34C>T (p.Arg12Cys) rs530921368 0.00002
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly) rs747231434 0.00002
NM_000503.6(EYA1):c.1026G>A (p.Gly342=) rs1195003159 0.00001
NM_000503.6(EYA1):c.1224C>T (p.Gly408=) rs1809269824 0.00001
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000503.6(EYA1):c.1454C>T (p.Ala485Val) rs778970223 0.00001
NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser) rs1563630587 0.00001
NM_000503.6(EYA1):c.1621A>G (p.Ile541Val) rs753553594 0.00001
NM_000503.6(EYA1):c.163A>G (p.Thr55Ala) rs139194909 0.00001
NM_000503.6(EYA1):c.1659T>C (p.Val553=) rs774427621 0.00001
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NM_000503.6(EYA1):c.491T>C (p.Leu164Pro) rs1007684729 0.00001
NM_000503.6(EYA1):c.548A>G (p.Gln183Arg) rs794727845 0.00001
NM_000503.6(EYA1):c.640-4G>C rs757754363 0.00001
NM_000503.6(EYA1):c.701C>T (p.Pro234Leu) rs761632944 0.00001
GRCh37/hg19 8q13.3(chr8:71816154-72197709)x1
GRCh37/hg19 8q13.3(chr8:72190320-72205191)x1
GRCh37/hg19 8q13.3(chr8:72201726-72213290)x3
GRCh37/hg19 8q13.3(chr8:72201726-72214222)x3
GRCh37/hg19 8q13.3(chr8:72201726-72217690)x3
GRCh37/hg19 8q13.3(chr8:72202074-72217690)x3
GRCh37/hg19 8q13.3(chr8:72202625-72217665)x3
GRCh37/hg19 8q13.3(chr8:72202968-72217690)x3
GRCh37/hg19 8q13.3(chr8:72204125-72217690)x3
GRCh37/hg19 8q13.3(chr8:72211178-72217690)x1
GRCh37/hg19 8q13.3(chr8:72214786-72225252)x0
GRCh37/hg19 8q13.3(chr8:72214786-72225345)x1
GRCh37/hg19 8q13.3(chr8:72259845-72272544)x3
GRCh37/hg19 8q13.3(chr8:72259845-72280705)x3
NM_000503.6(EYA1):c.-340G>T rs55997623
NM_000503.6(EYA1):c.1029del (p.Tyr344fs)
NM_000503.6(EYA1):c.1046G>T (p.Gly349Val) rs2128948109
NM_000503.6(EYA1):c.1051-323C>G rs116950892
NM_000503.6(EYA1):c.1051-5T>G rs2128904621
NM_000503.6(EYA1):c.1051G>T (p.Asp351Tyr) rs2128904607
NM_000503.6(EYA1):c.1053T>G (p.Asp351Glu)
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1116A>G (p.Thr372=) rs1041652836
NM_000503.6(EYA1):c.1117_1118del (p.His373fs) rs886039674
NM_000503.6(EYA1):c.1140+4_1140+7del rs1554605968
NM_000503.6(EYA1):c.1145G>A (p.Cys382Tyr)
NM_000503.6(EYA1):c.1157A>T (p.His386Leu) rs2128854710
NM_000503.6(EYA1):c.1189C>T (p.Gln397Ter) rs2128854635
NM_000503.6(EYA1):c.1310G>A (p.Arg437His)
NM_000503.6(EYA1):c.1360+286_1360+303dup rs61175547
NM_000503.6(EYA1):c.1381_1387dup (p.Ala463fs) rs2128851100
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter) rs1475718221
NM_000503.6(EYA1):c.1468C>G (p.His490Asp) rs748575456
NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln) rs2128850745
NM_000503.6(EYA1):c.1505C>G (p.Thr502Ser) rs1585810834
NM_000503.6(EYA1):c.1531A>T (p.Lys511Ter) rs1057520766
NM_000503.6(EYA1):c.1537C>A (p.Leu513Met) rs1809062554
NM_000503.6(EYA1):c.1543T>C (p.Tyr515His) rs2128850056
NM_000503.6(EYA1):c.1570G>T (p.Glu524Ter)
NM_000503.6(EYA1):c.1597+114del rs367683185
NM_000503.6(EYA1):c.1597+1G>A rs1563630117
NM_000503.6(EYA1):c.1597+1G>C
NM_000503.6(EYA1):c.1597+288del rs368815352
NM_000503.6(EYA1):c.1597G>C (p.Gly533Arg) rs1563630128
NM_000503.6(EYA1):c.1598-326C>G rs7818376
NM_000503.6(EYA1):c.1598-32_1598-8del
NM_000503.6(EYA1):c.1650G>A (p.Val550=) rs368320173
NM_000503.6(EYA1):c.1697A>G (p.Lys566Arg)
NM_000503.6(EYA1):c.1699-119_1699-116dup
NM_000503.6(EYA1):c.1714dup (p.Trp572fs) rs1064795739
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920
NM_000503.6(EYA1):c.197G>T (p.Gly66Val)
NM_000503.6(EYA1):c.201A>G (p.Ser67=) rs2129046974
NM_000503.6(EYA1):c.202+1G>A rs753245290
NM_000503.6(EYA1):c.202_203insTTAC (p.Ala68fs)
NM_000503.6(EYA1):c.235A>G (p.Thr79Ala) rs1554550645
NM_000503.6(EYA1):c.272+99A>T rs75686418
NM_000503.6(EYA1):c.296C>T (p.Pro99Leu)
NM_000503.6(EYA1):c.299C>T (p.Thr100Ile)
NM_000503.6(EYA1):c.300C>T (p.Thr100=) rs1378359746
NM_000503.6(EYA1):c.317T>C (p.Met106Thr) rs2129031597
NM_000503.6(EYA1):c.418+1G>A rs886042006
NM_000503.6(EYA1):c.524C>T (p.Pro175Leu) rs201908026
NM_000503.6(EYA1):c.557-206G>C rs148248577
NM_000503.6(EYA1):c.557-7del rs1586248304
NM_000503.6(EYA1):c.579A>G (p.Ser193=) rs945935998
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter) rs1563423589
NM_000503.6(EYA1):c.605del (p.Leu202fs) rs1554542073
NM_000503.6(EYA1):c.640-15G>A rs2129000122
NM_000503.6(EYA1):c.640-15_698del rs1554541834
NM_000503.6(EYA1):c.640G>A (p.Asp214Asn) rs1563422500
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg) rs200923204
NM_000503.6(EYA1):c.682_686dup (p.Tyr230fs) rs2128999992
NM_000503.6(EYA1):c.684G>A (p.Gln228=)
NM_000503.6(EYA1):c.758A>G (p.Asn253Ser) rs960785529
NM_000503.6(EYA1):c.811A>T (p.Thr271Ser)
NM_000503.6(EYA1):c.826+104C>T rs17783968
NM_000503.6(EYA1):c.826+214C>G rs56232555
NM_000503.6(EYA1):c.845_852del (p.Ser282fs)
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter) rs1816578250
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_000503.6(EYA1):c.900T>C (p.Asp300=) rs762588398
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.966+233_966+236del rs199972984
NM_000503.6(EYA1):c.966+5G>A rs606231357
NM_000503.6(EYA1):c.966+5G>C rs606231357
NM_000503.6(EYA1):c.966+5G>T
NM_000503.6(EYA1):c.971T>C (p.Val324Ala)
NM_001370334.1(EYA1):c.-135A>C

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.