ClinVar Miner

List of variants in gene EYA1 studied for Melnick-Fraser syndrome

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Gene type:
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Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397 0.35033
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.58C>G (p.Pro20Ala) rs1445404 0.05809
NM_000503.6(EYA1):c.556+18G>T rs113694988 0.02938
NM_000503.6(EYA1):c.1597+18T>C rs76259565 0.02609
NM_000503.6(EYA1):c.1699-3C>T rs117149407 0.01158
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.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.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.1185C>T (p.Asn395=) rs372488542 0.00016
NM_000503.6(EYA1):c.174C>T (p.Asp58=) rs370509332 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.1530G>A (p.Ala510=) rs147434089 0.00005
NM_000503.6(EYA1):c.266C>T (p.Pro89Leu) rs368351103 0.00005
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp) rs727503049 0.00005
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.175G>A (p.Gly59Arg) rs146216506 0.00003
NM_000503.6(EYA1):c.630T>C (p.Ser210=) rs373102227 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.1474C>T (p.Arg492Trp) rs1226367549 0.00002
NM_000503.6(EYA1):c.26C>T (p.Pro9Leu) rs766713665 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.639+14C>T rs775548082 0.00002
NM_000503.6(EYA1):c.718A>G (p.Met240Val) rs771549701 0.00002
NM_000503.6(EYA1):c.966+8A>G rs190039495 0.00002
NM_000503.6(EYA1):c.1270G>A (p.Val424Ile) rs746195192 0.00001
NM_000503.6(EYA1):c.1273C>T (p.Arg425Trp) rs779423947 0.00001
NM_000503.6(EYA1):c.1387G>A (p.Ala463Thr) rs1263352919 0.00001
NM_000503.6(EYA1):c.1454C>T (p.Ala485Val) rs778970223 0.00001
NM_000503.6(EYA1):c.1597+8G>A rs984704558 0.00001
NM_000503.6(EYA1):c.163A>G (p.Thr55Ala) rs139194909 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.229C>T (p.Arg77Ter) rs200164773 0.00001
NM_000503.6(EYA1):c.230G>A (p.Arg77Gln) rs770356158 0.00001
NM_000503.6(EYA1):c.289A>G (p.Ile97Val) rs1422583050 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.923G>A (p.Arg308Gln) rs369822742 0.00001
NC_000008.10:g.(?_72111575)_(72246429_?)del
NC_000008.10:g.(?_72111575)_(72267140_?)del
NC_000008.10:g.(?_72123371)_(72123511_?)del
NC_000008.11:g.(?_71244583)_(71244712_?)del
NC_000008.11:g.(?_71269720)_(71269843_?)del
NC_000008.11:g.(?_71269720)_(71271917_?)del
NM_000503.5(EYA1):c.557del rs1819990660
NM_000503.6(EYA1):c.1009C>T (p.His337Tyr)
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.1050+1G>T rs1816289467
NM_000503.6(EYA1):c.1050+20A>C
NM_000503.6(EYA1):c.1050+4A>G
NM_000503.6(EYA1):c.1051-12T>G rs2128904625
NM_000503.6(EYA1):c.1051-18G>A
NM_000503.6(EYA1):c.1051-2A>G rs2128904613
NM_000503.6(EYA1):c.1080G>T (p.Leu360=)
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1082G>C (p.Arg361Pro)
NM_000503.6(EYA1):c.1084del (p.Met362fs)
NM_000503.6(EYA1):c.113A>G (p.Asn38Ser)
NM_000503.6(EYA1):c.1140+11A>T rs759981657
NM_000503.6(EYA1):c.1140+1G>T rs1812855196
NM_000503.6(EYA1):c.1140+4A>C
NM_000503.6(EYA1):c.1140+4_1140+7del rs1554605968
NM_000503.6(EYA1):c.1140+5G>A rs1812854875
NM_000503.6(EYA1):c.1155C>A (p.Val385=)
NM_000503.6(EYA1):c.1169T>C (p.Val390Ala)
NM_000503.6(EYA1):c.1182dup (p.Asn395Ter) rs2128854678
NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter) rs727503047
NM_000503.6(EYA1):c.1190A>G (p.Gln397Arg)
NM_000503.6(EYA1):c.1198A>G (p.Ser400Gly) rs1809290834
NM_000503.6(EYA1):c.1199+12T>C
NM_000503.6(EYA1):c.1199+2T>A rs2128854556
NM_000503.6(EYA1):c.1200-1G>A rs1563634200
NM_000503.6(EYA1):c.1206T>C (p.Tyr402=)
NM_000503.6(EYA1):c.1217C>G (p.Thr406Arg)
NM_000503.6(EYA1):c.121G>C (p.Glu41Gln) rs561111097
NM_000503.6(EYA1):c.1223G>A (p.Gly408Asp)
NM_000503.6(EYA1):c.1236dup (p.Ala413fs) rs2128854105
NM_000503.6(EYA1):c.1246G>A (p.Ala416Thr)
NM_000503.6(EYA1):c.1248dup (p.Asn417Ter)
NM_000503.6(EYA1):c.1264A>C (p.Thr422Pro)
NM_000503.6(EYA1):c.1272dup (p.Arg425fs) rs2128854024
NM_000503.6(EYA1):c.1273C>G (p.Arg425Gly)
NM_000503.6(EYA1):c.128A>C (p.Lys43Thr)
NM_000503.6(EYA1):c.1309C>T (p.Arg437Cys)
NM_000503.6(EYA1):c.1313A>G (p.Tyr438Cys)
NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe) rs1374801818
NM_000503.6(EYA1):c.1315del (p.Arg439fs) rs2128853840
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1323A>C (p.Val441=)
NM_000503.6(EYA1):c.1325_1326del (p.Lys442fs) rs2128853806
NM_000503.6(EYA1):c.1329_1330del (p.Glu443fs) rs1554596461
NM_000503.6(EYA1):c.1354_1355del (p.Val452fs) rs1585817892
NM_000503.6(EYA1):c.1360+5G>A
NM_000503.6(EYA1):c.1361-1G>A rs397517917
NM_000503.6(EYA1):c.1361-2A>G rs2128851194
NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs) rs1585812463
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter) rs1475718221
NM_000503.6(EYA1):c.1445C>T (p.Ala482Val)
NM_000503.6(EYA1):c.1448T>C (p.Leu483Pro)
NM_000503.6(EYA1):c.1459T>C (p.Ser487Pro) rs121909200
NM_000503.6(EYA1):c.1460C>A (p.Ser487Ter) rs139717960
NM_000503.6(EYA1):c.1461G>A (p.Ser487=)
NM_000503.6(EYA1):c.1468C>G (p.His490Asp) rs748575456
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.1475G>A (p.Arg492Gln) rs2128850745
NM_000503.6(EYA1):c.1476-2A>T rs2128850357
NM_000503.6(EYA1):c.147C>T (p.Ser49=)
NM_000503.6(EYA1):c.1487_1488del (p.Val496fs) rs2128850318
NM_000503.6(EYA1):c.1488G>A (p.Val496=)
NM_000503.6(EYA1):c.1525T>A (p.Leu509Met)
NM_000503.6(EYA1):c.1545T>A (p.Tyr515Ter)
NM_000503.6(EYA1):c.1570_1571insTA (p.Glu524fs)
NM_000503.6(EYA1):c.1577T>G (p.Ile526Ser)
NM_000503.6(EYA1):c.158C>T (p.Ala53Val)
NM_000503.6(EYA1):c.1597+1G>T
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000503.6(EYA1):c.1598-19ATTT[3]
NM_000503.6(EYA1):c.1598-1G>C
NM_000503.6(EYA1):c.1598-2A>G rs1808471410
NM_000503.6(EYA1):c.1609T>C (p.Cys537Arg) rs1554594182
NM_000503.6(EYA1):c.1618A>G (p.Arg540Gly)
NM_000503.6(EYA1):c.1619_1620del (p.Arg540fs) rs2128835431
NM_000503.6(EYA1):c.1627C>T (p.Gln543Ter)
NM_000503.6(EYA1):c.1635del (p.Phe545fs) rs1808464696
NM_000503.6(EYA1):c.1644del (p.Val549fs) rs2128835339
NM_000503.6(EYA1):c.1654GTT[1] (p.Val553del) rs1563621870
NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter) rs1481254965
NM_000503.6(EYA1):c.1698+1G>T rs530147851
NM_000503.6(EYA1):c.1701del (p.His567fs)
NM_000503.6(EYA1):c.1704G>A (p.Ala568=)
NM_000503.6(EYA1):c.1717A>G (p.Arg573Gly) rs775343638
NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg) rs1585717154
NM_000503.6(EYA1):c.1743_1752dup (p.His585fs)
NM_000503.6(EYA1):c.1771dup (p.Tyr591fs)
NM_000503.6(EYA1):c.202+8A>T
NM_000503.6(EYA1):c.203-16T>G rs1342337171
NM_000503.6(EYA1):c.206T>C (p.Ile69Thr)
NM_000503.6(EYA1):c.218G>A (p.Ser73Asn)
NM_000503.6(EYA1):c.248C>G (p.Ser83Cys) rs748482012
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.273-3T>C rs2129031680
NM_000503.6(EYA1):c.27G>A (p.Pro9=) rs763352962
NM_000503.6(EYA1):c.296C>T (p.Pro99Leu)
NM_000503.6(EYA1):c.355C>T (p.Gln119Ter) rs2129031508
NM_000503.6(EYA1):c.384A>G (p.Pro128=)
NM_000503.6(EYA1):c.402C>G (p.Tyr134Ter)
NM_000503.6(EYA1):c.402C>T (p.Tyr134=)
NM_000503.6(EYA1):c.411C>G (p.Ser137=)
NM_000503.6(EYA1):c.417T>C (p.Tyr139=)
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.418+3G>C rs1554550269
NM_000503.6(EYA1):c.418+5G>A
NM_000503.6(EYA1):c.419-2A>G
NM_000503.6(EYA1):c.419-5T>C
NM_000503.6(EYA1):c.436A>G (p.Ile146Val)
NM_000503.6(EYA1):c.466C>T (p.Gln156Ter) rs1822069596
NM_000503.6(EYA1):c.470C>A (p.Ser157Ter) rs1586333305
NM_000503.6(EYA1):c.490dup (p.Leu164fs) rs2129025227
NM_000503.6(EYA1):c.515C>T (p.Thr172Ile)
NM_000503.6(EYA1):c.532del (p.Ala178fs) rs1554548840
NM_000503.6(EYA1):c.557-1G>A
NM_000503.6(EYA1):c.56C>G (p.Ser19Cys) rs2129069830
NM_000503.6(EYA1):c.585A>G (p.Ile195Met)
NM_000503.6(EYA1):c.602C>G (p.Ser201Ter) rs1563423589
NM_000503.6(EYA1):c.637C>T (p.Gln213Ter) rs2129000663
NM_000503.6(EYA1):c.639+1G>A rs869025180
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.640-15_698del rs1554541834
NM_000503.6(EYA1):c.640-16T>C
NM_000503.6(EYA1):c.647C>T (p.Pro216Leu)
NM_000503.6(EYA1):c.654T>G (p.Tyr218Ter) rs2129000083
NM_000503.6(EYA1):c.664G>T (p.Gly222Cys)
NM_000503.6(EYA1):c.678C>G (p.Tyr226Ter)
NM_000503.6(EYA1):c.679G>A (p.Ala227Thr)
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) rs1563422304
NM_000503.6(EYA1):c.684G>A (p.Gln228=)
NM_000503.6(EYA1):c.689A>G (p.Tyr230Cys)
NM_000503.6(EYA1):c.702G>A (p.Pro234=)
NM_000503.6(EYA1):c.755C>T (p.Thr252Ile)
NM_000503.6(EYA1):c.75C>T (p.Leu25=)
NM_000503.6(EYA1):c.775C>T (p.Gln259Ter) rs2128999627
NM_000503.6(EYA1):c.782del (p.Pro261fs) rs2128999606
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.806del (p.Ala269fs) rs1819903817
NM_000503.6(EYA1):c.811A>T (p.Thr271Ser)
NM_000503.6(EYA1):c.826+1G>A
NM_000503.6(EYA1):c.827-20T>C
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.8T>G (p.Met3Arg)
NM_000503.6(EYA1):c.906A>T (p.Lys302Asn)
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_000503.6(EYA1):c.922dup (p.Arg308fs)
NM_000503.6(EYA1):c.950del (p.Pro317fs)
NM_000503.6(EYA1):c.966+14A>G
NM_000503.6(EYA1):c.966+4C>G
NM_000503.6(EYA1):c.966+5G>A rs606231357
NM_000503.6(EYA1):c.966+5G>C rs606231357

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