ClinVar Miner

List of variants in gene EYA1 reported as benign

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Gene type:
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Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.*1581G>A rs9298163 0.97552
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.*1324T>C rs56115941 0.22152
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.*800T>C rs74862574 0.07544
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.556+18G>T rs113694988 0.02938
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.-271G>A rs73684755 0.02116
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.*1222A>C rs117394899 0.01315
NM_000503.6(EYA1):c.1699-3C>T rs117149407 0.01158
NM_000503.6(EYA1):c.*705G>T rs79700717 0.00975
NM_000503.6(EYA1):c.-191C>G rs55694100 0.00629
NM_000503.6(EYA1):c.*102T>G rs139109847 0.00616
NM_000503.6(EYA1):c.*1263C>T rs140308724 0.00454
NM_000503.6(EYA1):c.*353C>T rs151172668 0.00432
NM_000503.6(EYA1):c.*784T>C rs77243350 0.00322
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_000503.6(EYA1):c.1200-11C>A rs181457812 0.00176
NM_000503.6(EYA1):c.321T>C (p.Ala107=) rs112282055 0.00162
NM_000503.6(EYA1):c.744G>A (p.Thr248=) rs10098224 0.00124
NM_000503.6(EYA1):c.1141-15T>G rs186249248 0.00103
NM_000503.6(EYA1):c.1199+13G>T rs200345478 0.00096
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.35G>A (p.Arg12His) rs74720958 0.00035
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_000503.6(EYA1):c.1734G>A (p.Ser578=) rs770876882 0.00027
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) rs372488542 0.00016
NM_000503.6(EYA1):c.*104C>T rs545764396 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.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.65G>A (p.Gly22Asp) rs727503049 0.00005
NM_000503.6(EYA1):c.*1890A>G rs377092983 0.00003
NM_000503.6(EYA1):c.*556A>G rs553030149 0.00003
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly) rs747231434 0.00002
NM_000503.6(EYA1):c.724A>G (p.Ser242Gly) rs191838840 0.00002
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000503.6(EYA1):c.159T>C (p.Ala53=) rs768443449 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742 0.00001
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.*1310G>A rs147323889
NM_000503.6(EYA1):c.*509_*512del rs146202037
NM_000503.6(EYA1):c.-340G>T rs55997623
NM_000503.6(EYA1):c.-47C>A rs760164698
NM_000503.6(EYA1):c.1051-323C>G rs116950892
NM_000503.6(EYA1):c.121G>C (p.Glu41Gln) rs561111097
NM_000503.6(EYA1):c.1360+286_1360+303dup rs61175547
NM_000503.6(EYA1):c.1475+15G>A rs373917012
NM_000503.6(EYA1):c.147C>T (p.Ser49=)
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000503.6(EYA1):c.1598-19ATTT[3]
NM_000503.6(EYA1):c.1598-326C>G rs7818376
NM_000503.6(EYA1):c.1701C>T (p.His567=) rs763080811
NM_000503.6(EYA1):c.272+99A>T rs75686418
NM_000503.6(EYA1):c.702G>A (p.Pro234=)
NM_000503.6(EYA1):c.826+104C>T rs17783968
NM_000503.6(EYA1):c.966+233_966+236del rs199972984

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