ClinVar Miner

List of variants reported as likely benign for Isolated microphthalmia 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 241
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HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.355A>G (p.Ile119Val) rs4639950 0.01611
NM_031433.4(MFRP):c.629G>T (p.Gly210Val) rs150902999 0.00344
NM_031433.4(MFRP):c.669G>A (p.Thr223=) rs139222274 0.00187
NM_001278431.2(C1QTNF5):c.*34C>G rs200181343 0.00142
NM_031433.4(MFRP):c.191G>A (p.Arg64His) rs149376662 0.00106
NM_031433.4(MFRP):c.976-14A>C rs200069261 0.00050
NM_031433.4(MFRP):c.1516-19G>A rs200556504 0.00035
NM_031433.4(MFRP):c.1387+20G>A rs371437024 0.00033
NM_031433.4(MFRP):c.360C>A (p.Thr120=) rs369448482 0.00027
NM_031433.4(MFRP):c.48G>A (p.Ser16=) rs371836189 0.00026
NM_031433.4(MFRP):c.271+13G>A rs372624347 0.00018
NM_031433.4(MFRP):c.158-20C>G rs527834636 0.00017
NM_031433.4(MFRP):c.*235G>A rs377666251 0.00016
NM_031433.4(MFRP):c.642-16A>G rs557131772 0.00015
NM_031433.4(MFRP):c.768G>A (p.Gly256=) rs370837458 0.00015
NM_031433.4(MFRP):c.1056C>T (p.Asp352=) rs139725826 0.00013
NM_031433.4(MFRP):c.897G>A (p.Ser299=) rs150284394 0.00013
NM_031433.4(MFRP):c.159T>C (p.Gly53=) rs372897338 0.00011
NM_031433.4(MFRP):c.1256-4G>A rs142533439 0.00010
NM_031433.4(MFRP):c.1497G>A (p.Glu499=) rs375425631 0.00009
NM_031433.4(MFRP):c.705C>T (p.Phe235=) rs34190279 0.00008
NM_031433.4(MFRP):c.772+18T>C rs200795678 0.00008
NM_031433.4(MFRP):c.271+11G>A rs185182877 0.00007
NM_031433.4(MFRP):c.861C>T (p.Asp287=) rs140710522 0.00007
NM_031433.4(MFRP):c.898+5G>A rs201089284 0.00007
NM_031433.4(MFRP):c.899-10C>A rs370434693 0.00007
NM_031433.4(MFRP):c.1124+13G>T rs375934498 0.00006
NM_031433.4(MFRP):c.1255+16C>A rs370286787 0.00006
NM_031433.4(MFRP):c.297G>A (p.Gly99=) rs746179158 0.00006
NM_031433.4(MFRP):c.558C>T (p.Ile186=) rs200027112 0.00006
NM_031433.4(MFRP):c.57C>T (p.Thr19=) rs368205663 0.00006
NM_031433.4(MFRP):c.771C>T (p.Arg257=) rs199739786 0.00006
NM_031433.4(MFRP):c.898+20G>T rs201414699 0.00006
NM_031433.4(MFRP):c.158-5C>T rs377284471 0.00005
NM_031433.4(MFRP):c.271+10C>T rs554865241 0.00005
NM_031433.4(MFRP):c.1005C>T (p.Ala335=) rs374278010 0.00004
NM_031433.4(MFRP):c.1365C>T (p.Ser455=) rs766909293 0.00004
NM_031433.4(MFRP):c.321C>T (p.Ala107=) rs562580805 0.00004
NM_031433.4(MFRP):c.641+20G>A rs374976891 0.00004
NM_031433.4(MFRP):c.773-16T>C rs369657196 0.00004
NM_031433.4(MFRP):c.975+8C>G rs190648435 0.00004
NM_031433.4(MFRP):c.999G>A (p.Val333=) rs775245313 0.00004
NM_031433.4(MFRP):c.1155C>T (p.Leu385=) rs756339504 0.00003
NM_031433.4(MFRP):c.1230C>T (p.Thr410=) rs371946990 0.00003
NM_031433.4(MFRP):c.1255+15G>A rs373984029 0.00003
NM_031433.4(MFRP):c.1256-18T>C rs770971634 0.00003
NM_031433.4(MFRP):c.1371C>G (p.Pro457=) rs766197375 0.00003
NM_031433.4(MFRP):c.1461C>A (p.Ile487=) rs202139926 0.00003
NM_031433.4(MFRP):c.1506C>T (p.Ser502=) rs773497972 0.00003
NM_031433.4(MFRP):c.272-9C>T rs376343663 0.00003
NM_031433.4(MFRP):c.453A>C (p.Pro151=) rs776144292 0.00003
NM_031433.4(MFRP):c.641+11C>T rs748347387 0.00003
NM_031433.4(MFRP):c.772+11T>C rs1040406752 0.00003
NM_031433.4(MFRP):c.1242C>T (p.Phe414=) rs1313013945 0.00002
NM_031433.4(MFRP):c.158-4G>A rs560861324 0.00002
NM_031433.4(MFRP):c.219C>T (p.Leu73=) rs750924849 0.00002
NM_031433.4(MFRP):c.772+15A>G rs780639268 0.00002
NM_031433.4(MFRP):c.78C>T (p.Phe26=) rs188844398 0.00002
NM_031433.4(MFRP):c.915G>A (p.Leu305=) rs376084659 0.00002
NM_031433.4(MFRP):c.976-8T>C rs1291229832 0.00002
NM_031433.4(MFRP):c.996G>A (p.Ser332=) rs760718997 0.00002
NM_031433.4(MFRP):c.1104G>A (p.Gly368=) rs760893187 0.00001
NM_031433.4(MFRP):c.1122C>G (p.Gly374=) rs748973851 0.00001
NM_031433.4(MFRP):c.1125-20C>T rs747809803 0.00001
NM_031433.4(MFRP):c.1125-6G>C rs1300290345 0.00001
NM_031433.4(MFRP):c.1140G>A (p.Glu380=) rs149762583 0.00001
NM_031433.4(MFRP):c.1239C>T (p.Ala413=) rs752871438 0.00001
NM_031433.4(MFRP):c.1255+13G>A rs776266547 0.00001
NM_031433.4(MFRP):c.1256-8G>A rs1348703547 0.00001
NM_031433.4(MFRP):c.1350C>T (p.Ser450=) rs779359811 0.00001
NM_031433.4(MFRP):c.1387+17T>C rs1376948791 0.00001
NM_031433.4(MFRP):c.1388-8C>T rs576998134 0.00001
NM_031433.4(MFRP):c.1437C>T (p.Tyr479=) rs534138745 0.00001
NM_031433.4(MFRP):c.1500C>G (p.Val500=) rs763296494 0.00001
NM_031433.4(MFRP):c.1515+13G>C rs769082401 0.00001
NM_031433.4(MFRP):c.1515+20G>A rs1328244349 0.00001
NM_031433.4(MFRP):c.1516-4G>A rs372014001 0.00001
NM_031433.4(MFRP):c.1521G>A (p.Leu507=) rs1231149376 0.00001
NM_031433.4(MFRP):c.158-19C>T rs1254050551 0.00001
NM_031433.4(MFRP):c.1666C>T (p.Leu556=) rs577487940 0.00001
NM_031433.4(MFRP):c.1731C>G (p.Ala577=) rs1204414000 0.00001
NM_031433.4(MFRP):c.204C>G (p.Leu68=) rs1156531506 0.00001
NM_031433.4(MFRP):c.213C>T (p.Leu71=) rs879617414 0.00001
NM_031433.4(MFRP):c.228G>A (p.Leu76=) rs1251159708 0.00001
NM_031433.4(MFRP):c.237G>A (p.Leu79=) rs982198049 0.00001
NM_031433.4(MFRP):c.240G>A (p.Leu80=) rs970839210 0.00001
NM_031433.4(MFRP):c.271+8C>T rs776945051 0.00001
NM_031433.4(MFRP):c.272-8G>A rs1292498545 0.00001
NM_031433.4(MFRP):c.300G>A (p.Ala100=) rs370696881 0.00001
NM_031433.4(MFRP):c.303C>T (p.Ser101=) rs530322096 0.00001
NM_031433.4(MFRP):c.336G>A (p.Thr112=) rs377313151 0.00001
NM_031433.4(MFRP):c.342C>T (p.Thr114=) rs140825822 0.00001
NM_031433.4(MFRP):c.372A>G (p.Ala124=) rs760853152 0.00001
NM_031433.4(MFRP):c.381C>T (p.Thr127=) rs376089140 0.00001
NM_031433.4(MFRP):c.427+14G>T rs1003948702 0.00001
NM_031433.4(MFRP):c.428-19C>G rs751646715 0.00001
NM_031433.4(MFRP):c.465C>T (p.Phe155=) rs748084228 0.00001
NM_031433.4(MFRP):c.483A>G (p.Pro161=) rs760363316 0.00001
NM_031433.4(MFRP):c.486C>T (p.Asp162=) rs1216908582 0.00001
NM_031433.4(MFRP):c.54+20G>A rs1201021099 0.00001
NM_031433.4(MFRP):c.54+9C>T rs777751948 0.00001
NM_031433.4(MFRP):c.55-8C>G rs762086812 0.00001
NM_031433.4(MFRP):c.641+14dup rs1187016587 0.00001
NM_031433.4(MFRP):c.641+8C>T rs1187232121 0.00001
NM_031433.4(MFRP):c.642-20C>T rs570176649 0.00001
NM_031433.4(MFRP):c.663C>T (p.Pro221=) rs1040435706 0.00001
NM_031433.4(MFRP):c.694C>T (p.Leu232=) rs746412252 0.00001
NM_031433.4(MFRP):c.717C>T (p.Ser239=) rs755801900 0.00001
NM_031433.4(MFRP):c.772+10T>C rs1169162740 0.00001
NM_031433.4(MFRP):c.772+8T>G rs747864894 0.00001
NM_031433.4(MFRP):c.840T>C (p.Asp280=) rs1411512596 0.00001
NM_031433.4(MFRP):c.852C>T (p.Asn284=) rs781152331 0.00001
NM_031433.4(MFRP):c.898+11G>A rs768925654 0.00001
NM_031433.4(MFRP):c.898+15T>C rs745513112 0.00001
NM_031433.4(MFRP):c.898+17G>A rs770708335 0.00001
NM_031433.4(MFRP):c.898+18G>C rs747092151 0.00001
NM_031433.4(MFRP):c.898+19G>T rs777698284 0.00001
NM_031433.4(MFRP):c.898+7G>A rs1463249613 0.00001
NM_031433.4(MFRP):c.976-12G>A rs1208300619 0.00001
NM_031433.4(MFRP):c.976-7C>T rs1292048337 0.00001
NM_031433.4(MFRP):c.1008A>G (p.Gly336=) rs762880760
NM_031433.4(MFRP):c.102C>T (p.Cys34=)
NM_031433.4(MFRP):c.1044G>A (p.Leu348=) rs778391048
NM_031433.4(MFRP):c.1068T>C (p.Phe356=) rs2135370541
NM_031433.4(MFRP):c.1074C>T (p.Tyr358=) rs752690524
NM_031433.4(MFRP):c.1107C>T (p.Ala369=) rs997384171
NM_031433.4(MFRP):c.1124+10C>T
NM_031433.4(MFRP):c.1125-14T>C rs2135369599
NM_031433.4(MFRP):c.1164G>A (p.Ser388=)
NM_031433.4(MFRP):c.1164G>C (p.Ser388=) rs764605750
NM_031433.4(MFRP):c.1176G>A (p.Leu392=) rs772644068
NM_031433.4(MFRP):c.1212T>C (p.Ser404=) rs1254577055
NM_031433.4(MFRP):c.1227C>T (p.Ala409=) rs2135369420
NM_031433.4(MFRP):c.1230C>A (p.Thr410=) rs371946990
NM_031433.4(MFRP):c.1255+15G>T rs373984029
NM_031433.4(MFRP):c.1255+7G>T rs763388417
NM_031433.4(MFRP):c.1256-14C>T rs2135369196
NM_031433.4(MFRP):c.1256-16C>A
NM_031433.4(MFRP):c.1256-17G>T rs749155264
NM_031433.4(MFRP):c.1256-20C>T rs2135369214
NM_031433.4(MFRP):c.1263T>C (p.Cys421=) rs2135369155
NM_031433.4(MFRP):c.1269C>T (p.Pro423=) rs2135369139
NM_031433.4(MFRP):c.1335C>T (p.Asp445=) rs1565293135
NM_031433.4(MFRP):c.1341C>T (p.Thr447=) rs574601214
NM_031433.4(MFRP):c.1387+11T>C
NM_031433.4(MFRP):c.1387+14C>A rs2497081949
NM_031433.4(MFRP):c.1388-12C>T rs1161483928
NM_031433.4(MFRP):c.1388-14C>T rs1403920624
NM_031433.4(MFRP):c.1388-18T>C
NM_031433.4(MFRP):c.1388-19del rs2135368256
NM_031433.4(MFRP):c.1410G>A (p.Gln470=) rs139002144
NM_031433.4(MFRP):c.1425C>T (p.Leu475=) rs369711800
NM_031433.4(MFRP):c.147T>C (p.Ala49=) rs2135374739
NM_031433.4(MFRP):c.157+9C>A rs1353797359
NM_031433.4(MFRP):c.1578C>T (p.Pro526=) rs1036542163
NM_031433.4(MFRP):c.158-11C>G rs2497094684
NM_031433.4(MFRP):c.158-17C>T rs777983791
NM_031433.4(MFRP):c.1626C>T (p.Cys542=) rs764371749
NM_031433.4(MFRP):c.1635G>T (p.Ala545=) rs138370910
NM_031433.4(MFRP):c.165T>C (p.Arg55=) rs2135374534
NM_031433.4(MFRP):c.1719G>A (p.Leu573=) rs757296756
NM_031433.4(MFRP):c.171A>G (p.Arg57=) rs775408537
NM_031433.4(MFRP):c.174G>T (p.Gly58=) rs200989572
NM_031433.4(MFRP):c.183A>G (p.Pro61=)
NM_031433.4(MFRP):c.192C>T (p.Arg64=) rs200143181
NM_031433.4(MFRP):c.228G>C (p.Leu76=) rs1251159708
NM_031433.4(MFRP):c.231C>A (p.Leu77=) rs764698496
NM_031433.4(MFRP):c.255G>T (p.Val85=) rs2497094244
NM_031433.4(MFRP):c.271+10C>A rs554865241
NM_031433.4(MFRP):c.271+12G>A rs771849767
NM_031433.4(MFRP):c.271+19C>T rs774294837
NM_031433.4(MFRP):c.272-18C>T rs1258897196
NM_031433.4(MFRP):c.274C>T (p.Leu92=)
NM_031433.4(MFRP):c.279G>A (p.Gln93=) rs2135374141
NM_031433.4(MFRP):c.294T>A (p.Ser98=) rs2497093691
NM_031433.4(MFRP):c.309C>T (p.Ser103=) rs767087902
NM_031433.4(MFRP):c.313C>T (p.Leu105=) rs751425251
NM_031433.4(MFRP):c.321C>G (p.Ala107=) rs562580805
NM_031433.4(MFRP):c.345C>A (p.Thr115=)
NM_031433.4(MFRP):c.348C>G (p.Thr116=) rs2497093465
NM_031433.4(MFRP):c.427+18A>T rs2497093175
NM_031433.4(MFRP):c.428-10A>T rs2135373680
NM_031433.4(MFRP):c.428-17A>G rs2497092864
NM_031433.4(MFRP):c.429C>T (p.Thr143=) rs2497092798
NM_031433.4(MFRP):c.441C>T (p.Leu147=) rs774932318
NM_031433.4(MFRP):c.444C>G (p.Leu148=) rs372728639
NM_031433.4(MFRP):c.444C>T (p.Leu148=) rs372728639
NM_031433.4(MFRP):c.496C>G (p.Pro166Ala) rs145285193
NM_031433.4(MFRP):c.513G>A (p.Val171=) rs1393614109
NM_031433.4(MFRP):c.522C>T (p.Ile174=)
NM_031433.4(MFRP):c.543A>C (p.Ala181=) rs765954024
NM_031433.4(MFRP):c.55-8C>A rs762086812
NM_031433.4(MFRP):c.57C>G (p.Thr19=) rs368205663
NM_031433.4(MFRP):c.582G>A (p.Val194=) rs1950553575
NM_031433.4(MFRP):c.612C>T (p.Leu204=) rs1950553193
NM_031433.4(MFRP):c.618T>G (p.Pro206=) rs2497092062
NM_031433.4(MFRP):c.630C>G (p.Gly210=) rs749323383
NM_031433.4(MFRP):c.630C>T (p.Gly210=) rs749323383
NM_031433.4(MFRP):c.641+17C>G rs2497091935
NM_031433.4(MFRP):c.641+19A>C rs2135373201
NM_031433.4(MFRP):c.642-11G>C rs1591305784
NM_031433.4(MFRP):c.642-15C>A rs780265379
NM_031433.4(MFRP):c.642-18C>A rs1461541119
NM_031433.4(MFRP):c.642-19C>A
NM_031433.4(MFRP):c.642-19C>G rs996211821
NM_031433.4(MFRP):c.642-20C>G rs570176649
NM_031433.4(MFRP):c.657G>T (p.Val219=) rs763672504
NM_031433.4(MFRP):c.666C>A (p.Pro222=) rs765386106
NM_031433.4(MFRP):c.666C>G (p.Pro222=) rs765386106
NM_031433.4(MFRP):c.666C>T (p.Pro222=) rs765386106
NM_031433.4(MFRP):c.696G>C (p.Leu232=) rs1049764064
NM_031433.4(MFRP):c.726A>G (p.Glu242=)
NM_031433.4(MFRP):c.772+14_772+15delinsAT rs2135372407
NM_031433.4(MFRP):c.773-17C>G rs2497089473
NM_031433.4(MFRP):c.773-20C>T
NM_031433.4(MFRP):c.792G>A (p.Glu264=)
NM_031433.4(MFRP):c.822A>G (p.Leu274=) rs1950541640
NM_031433.4(MFRP):c.828C>T (p.Asp276=) rs745601323
NM_031433.4(MFRP):c.843T>G (p.Gly281=) rs1157298244
NM_031433.4(MFRP):c.87G>A (p.Glu29=) rs2135374803
NM_031433.4(MFRP):c.898+10A>G
NM_031433.4(MFRP):c.898+18G>A rs747092151
NM_031433.4(MFRP):c.898+19G>C rs777698284
NM_031433.4(MFRP):c.898+20G>A
NM_031433.4(MFRP):c.898+7G>T rs1463249613
NM_031433.4(MFRP):c.898+9C>G rs2135372011
NM_031433.4(MFRP):c.899-12A>G rs2135371581
NM_031433.4(MFRP):c.899-15del rs772995779
NM_031433.4(MFRP):c.899-4A>G rs2135371573
NM_031433.4(MFRP):c.909G>A (p.Gly303=) rs777996384
NM_031433.4(MFRP):c.909G>C (p.Gly303=) rs777996384
NM_031433.4(MFRP):c.921C>G (p.Gly307=) rs767165696
NM_031433.4(MFRP):c.921C>T (p.Gly307=) rs767165696
NM_031433.4(MFRP):c.960G>A (p.Gln320=) rs2497087616
NM_031433.4(MFRP):c.972A>G (p.Gln324=) rs896038961
NM_031433.4(MFRP):c.975+12G>C rs2135371370
NM_031433.4(MFRP):c.976-10C>T rs2135370768
NM_031433.4(MFRP):c.976-4C>G rs1282347800
NM_031433.4(MFRP):c.976-4C>T
NM_031433.4(MFRP):c.993C>T (p.Ile331=) rs2497086044
NM_031433.4(MFRP):c.9C>T (p.Asp3=) rs2497095803

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