ClinVar Miner

List of variants in gene EYA1 reported as likely benign

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Gene type:
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Total variants: 140
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HGVS dbSNP gnomAD frequency
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.-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_000503.5(EYA1):c.*1914T>G rs112480709 0.00323
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.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.648G>A (p.Pro216=) rs148973681 0.00067
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.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.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.557-12A>G rs373445545 0.00013
NM_000503.6(EYA1):c.783G>A (p.Pro261=) rs146648560 0.00013
NM_000503.6(EYA1):c.1032C>T (p.Tyr344=) rs778091745 0.00011
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.121G>A (p.Glu41Lys) rs561111097 0.00006
NM_000503.6(EYA1):c.399G>A (p.Pro133=) rs146356299 0.00006
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.1530G>A (p.Ala510=) rs147434089 0.00005
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_000503.6(EYA1):c.299C>A (p.Thr100Asn) rs373501480 0.00005
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.1383G>A (p.Arg461=) rs540131742 0.00003
NM_000503.6(EYA1):c.1425C>T (p.Thr475=) rs727503043 0.00003
NM_000503.6(EYA1):c.1455A>C (p.Ala485=) rs200008207 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.910C>T (p.Arg304Cys) rs772877702 0.00003
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_000503.6(EYA1):c.1199+8C>T rs770687311 0.00002
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu) rs766713665 0.00002
NM_000503.6(EYA1):c.966+8A>G rs190039495 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.1270G>A (p.Val424Ile) rs746195192 0.00001
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000503.6(EYA1):c.1464C>T (p.Leu488=) rs770264648 0.00001
NM_000503.6(EYA1):c.1597+8G>A rs984704558 0.00001
NM_000503.6(EYA1):c.159T>C (p.Ala53=) rs768443449 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.165G>A (p.Thr55=) rs745425275 0.00001
NM_000503.6(EYA1):c.202+9T>C rs755469377 0.00001
NM_000503.6(EYA1):c.230G>A (p.Arg77Gln) rs770356158 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
NM_000503.6(EYA1):c.*1217TTA[1] rs574723016
NM_000503.6(EYA1):c.*1561ATCA[3] rs553875263
NM_000503.6(EYA1):c.-47C>A rs760164698
NM_000503.6(EYA1):c.1050+20A>C
NM_000503.6(EYA1):c.1051-18G>A
NM_000503.6(EYA1):c.1080G>T (p.Leu360=)
NM_000503.6(EYA1):c.1116A>G (p.Thr372=) rs1041652836
NM_000503.6(EYA1):c.1140+11A>T rs759981657
NM_000503.6(EYA1):c.1155C>A (p.Val385=)
NM_000503.6(EYA1):c.1199+12T>C
NM_000503.6(EYA1):c.1206T>C (p.Tyr402=)
NM_000503.6(EYA1):c.1264A>C (p.Thr422Pro)
NM_000503.6(EYA1):c.1323A>C (p.Val441=)
NM_000503.6(EYA1):c.1461G>A (p.Ser487=)
NM_000503.6(EYA1):c.1475+10T>A
NM_000503.6(EYA1):c.1475+15G>A rs373917012
NM_000503.6(EYA1):c.1475+15G>T rs373917012
NM_000503.6(EYA1):c.1475+6del
NM_000503.6(EYA1):c.1488G>A (p.Val496=)
NM_000503.6(EYA1):c.1505C>G (p.Thr502Ser) rs1585810834
NM_000503.6(EYA1):c.1597+114del rs367683185
NM_000503.6(EYA1):c.1597+288del rs368815352
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000503.6(EYA1):c.1650G>A (p.Val550=) rs368320173
NM_000503.6(EYA1):c.1699-119_1699-116dup
NM_000503.6(EYA1):c.1701C>A (p.His567Gln) rs763080811
NM_000503.6(EYA1):c.1704G>A (p.Ala568=)
NM_000503.6(EYA1):c.202+8A>T
NM_000503.6(EYA1):c.203-16T>G rs1342337171
NM_000503.6(EYA1):c.255A>G (p.Pro85=)
NM_000503.6(EYA1):c.272+13T>G
NM_000503.6(EYA1):c.272+13_272+14insTA
NM_000503.6(EYA1):c.272+15C>A
NM_000503.6(EYA1):c.272+17del
NM_000503.6(EYA1):c.272+9_272+10insTTTATT
NM_000503.6(EYA1):c.273-10T>G
NM_000503.6(EYA1):c.273-18G>T
NM_000503.6(EYA1):c.273-20C>T
NM_000503.6(EYA1):c.27G>A (p.Pro9=) rs763352962
NM_000503.6(EYA1):c.296C>T (p.Pro99Leu)
NM_000503.6(EYA1):c.339G>A (p.Gln113=)
NM_000503.6(EYA1):c.384A>G (p.Pro128=)
NM_000503.6(EYA1):c.402C>T (p.Tyr134=)
NM_000503.6(EYA1):c.411C>G (p.Ser137=)
NM_000503.6(EYA1):c.418+10C>G
NM_000503.6(EYA1):c.418+10C>T
NM_000503.6(EYA1):c.418+11T>G
NM_000503.6(EYA1):c.418+15A>G
NM_000503.6(EYA1):c.436A>G (p.Ile146Val)
NM_000503.6(EYA1):c.557-206G>C rs148248577
NM_000503.6(EYA1):c.557-7del rs1586248304
NM_000503.6(EYA1):c.639+20T>C
NM_000503.6(EYA1):c.640-14G>A
NM_000503.6(EYA1):c.640-15G>A rs2129000122
NM_000503.6(EYA1):c.640-16T>C
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg) rs200923204
NM_000503.6(EYA1):c.684G>A (p.Gln228=)
NM_000503.6(EYA1):c.75C>T (p.Leu25=)
NM_000503.6(EYA1):c.783G>T (p.Pro261=)
NM_000503.6(EYA1):c.799A>G (p.Ser267Gly)
NM_000503.6(EYA1):c.806C>A (p.Ala269Glu)
NM_000503.6(EYA1):c.826+214C>G rs56232555
NM_000503.6(EYA1):c.827-20T>C
NM_000503.6(EYA1):c.966+14A>G
NM_000503.6(EYA1):c.967-13T>C rs749461885
NM_001370334.1(EYA1):c.-135A>C

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