ClinVar Miner

List of variants in gene EYA1 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.*1581G>A rs9298163 0.97552
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397 0.35033
NM_000503.6(EYA1):c.*1324T>C rs56115941 0.22152
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118 0.13734
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398 0.08547
NM_000503.6(EYA1):c.*800T>C rs74862574 0.07544
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404 0.05809
NM_000503.6(EYA1):c.-271G>A rs73684755 0.02116
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_000503.5(EYA1):c.*1914T>G rs112480709 0.00323
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.*429T>C rs192602787 0.00165
NM_000503.6(EYA1):c.-173G>T rs886063091 0.00152
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.*1672T>A rs777991930 0.00055
NM_000503.6(EYA1):c.*86C>A rs186838732 0.00055
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_000503.6(EYA1):c.*848G>A rs775498240 0.00023
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219 0.00023
NM_000503.6(EYA1):c.*1543T>G rs867228117 0.00022
NM_000503.6(EYA1):c.*117G>A rs886063087 0.00019
NM_000503.6(EYA1):c.*1275G>A rs192113669 0.00017
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.557-12A>G rs373445545 0.00013
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.*1284C>A rs867048052 0.00010
NM_000503.6(EYA1):c.*442G>A rs767388665 0.00010
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933 0.00007
NM_000503.6(EYA1):c.*1391G>A rs543035675 0.00006
NM_000503.6(EYA1):c.299C>A (p.Thr100Asn) rs373501480 0.00005
NM_000503.6(EYA1):c.*1229G>A rs769460553 0.00004
NM_000503.6(EYA1):c.*1561A>G rs1042576113 0.00004
NM_000503.6(EYA1):c.*545C>T rs886063086 0.00004
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.-188C>T rs1045608759 0.00003
NM_000503.6(EYA1):c.-49A>G rs773963094 0.00003
NM_000503.6(EYA1):c.630T>C (p.Ser210=) rs373102227 0.00003
NM_000503.6(EYA1):c.743C>T (p.Thr248Met) rs186736708 0.00003
NM_000503.6(EYA1):c.*1529C>T rs779384590 0.00002
NM_000503.6(EYA1):c.*866C>T rs979538866 0.00002
NM_000503.6(EYA1):c.724A>G (p.Ser242Gly) rs191838840 0.00002
NM_000503.6(EYA1):c.*1297A>G rs1806462036 0.00001
NM_000503.6(EYA1):c.*1598A>C rs886063084 0.00001
NM_000503.6(EYA1):c.*70G>A rs938004211 0.00001
NM_000503.6(EYA1):c.-429G>A rs886063094 0.00001
NM_000503.6(EYA1):c.-454G>A rs569684779 0.00001
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000503.6(EYA1):c.1509T>C (p.Thr503=) rs371495884 0.00001
NM_000503.6(EYA1):c.159T>C (p.Ala53=) rs768443449 0.00001
NM_000503.6(EYA1):c.196G>T (p.Gly66Cys) rs886063089 0.00001
NM_000503.6(EYA1):c.230G>A (p.Arg77Gln) rs770356158 0.00001
NM_000503.6(EYA1):c.378G>A (p.Thr126=) rs766288763 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NM_000503.6(EYA1):c.556+5G>C rs886063088 0.00001
NM_000503.6(EYA1):c.827-8T>A rs1240727448 0.00001
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742 0.00001
NM_000503.5(EYA1):c.-508A>G rs886063095
NM_000503.5(EYA1):c.-564_-563delAG rs886063096
NM_000503.5(EYA1):c.-588_-587delAA rs35320129
NM_000503.5(EYA1):c.-588_-587dup rs35320129
NM_000503.5(EYA1):c.-589C>A rs886063099
NM_000503.5(EYA1):c.-590C>A rs886063100
NM_000503.6(EYA1):c.*1126T>C rs1806487217
NM_000503.6(EYA1):c.*1135_*1138dup rs886063085
NM_000503.6(EYA1):c.*1217TTA[1] rs574723016
NM_000503.6(EYA1):c.*1310G>A rs147323889
NM_000503.6(EYA1):c.*1372_*1375dup rs142792208
NM_000503.6(EYA1):c.*1561ATCA[3] rs553875263
NM_000503.6(EYA1):c.*451C>T rs1806581730
NM_000503.6(EYA1):c.*509_*512del rs146202037
NM_000503.6(EYA1):c.*755A>T rs1806536881
NM_000503.6(EYA1):c.*770_*773dup rs371488223
NM_000503.6(EYA1):c.*901dup rs570995924
NM_000503.6(EYA1):c.-155G>A rs886063090
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.-326G>T rs551597748
NM_000503.6(EYA1):c.-340G>C rs55997623
NM_000503.6(EYA1):c.-340G>T rs55997623
NM_000503.6(EYA1):c.-47C>A rs760164698
NM_000503.6(EYA1):c.-75G>C rs558296770
NM_000503.6(EYA1):c.1258T>C (p.Leu420=) rs200074362
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe) rs1374801818
NM_000503.6(EYA1):c.1475+15G>A rs373917012
NM_000503.6(EYA1):c.1475+15G>T rs373917012
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000503.6(EYA1):c.1698+14G>A rs373281401
NM_000503.6(EYA1):c.1701C>A (p.His567Gln) rs763080811
NM_000503.6(EYA1):c.1701C>T (p.His567=) rs763080811
NM_000503.6(EYA1):c.203-15G>T rs772006212

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.