ClinVar Miner

List of variants reported as likely benign for isolated microphthalmia 2 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 240
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_182894.3(VSX2):c.162C>A (p.Asp54Glu) rs61747367 0.00226
NM_182894.3(VSX2):c.1046C>T (p.Ala349Val) rs137872696 0.00078
NM_182894.3(VSX2):c.308T>C (p.Val103Ala) rs375237762 0.00070
NM_182894.3(VSX2):c.939T>A (p.Ala313=) rs372651860 0.00051
NM_182894.3(VSX2):c.244G>A (p.Gly82Arg) rs375294678 0.00021
NM_182894.3(VSX2):c.396T>C (p.Asp132=) rs112923895 0.00021
NM_182894.3(VSX2):c.66G>C (p.Ser22=) rs542328201 0.00017
NM_182894.3(VSX2):c.93G>A (p.Gly31=) rs528290024 0.00017
NM_182894.3(VSX2):c.906G>A (p.Arg302=) rs369042868 0.00016
NM_182894.3(VSX2):c.267G>T (p.Thr89=) rs369629867 0.00013
NM_182894.3(VSX2):c.1065G>A (p.Pro355=) rs370443332 0.00012
NM_182894.3(VSX2):c.651G>A (p.Ala217=) rs150792267 0.00009
NM_182894.3(VSX2):c.760+10C>T rs531442040 0.00009
NM_182894.3(VSX2):c.798G>A (p.Ser266=) rs189139917 0.00007
NM_182894.3(VSX2):c.504C>T (p.Asn168=) rs550984628 0.00005
NM_182894.3(VSX2):c.666C>T (p.Tyr222=) rs373242858 0.00004
NM_182894.3(VSX2):c.714G>A (p.Lys238=) rs377107974 0.00004
NM_182894.3(VSX2):c.822C>G (p.Arg274=) rs756475048 0.00004
NM_182894.3(VSX2):c.1002C>T (p.Thr334=) rs778183266 0.00003
NM_182894.3(VSX2):c.201G>C (p.Val67=) rs893692764 0.00003
NM_182894.3(VSX2):c.204C>G (p.Leu68=) rs929081926 0.00003
NM_182894.3(VSX2):c.322T>C (p.Leu108=) rs758972546 0.00003
NM_182894.3(VSX2):c.762G>A (p.Gly254=) rs1327598057 0.00003
NM_182894.3(VSX2):c.777G>A (p.Ser259=) rs371707151 0.00003
NM_182894.3(VSX2):c.858C>T (p.Asp286=) rs772616650 0.00003
NM_182894.3(VSX2):c.1014G>A (p.Glu338=) rs779623363 0.00002
NM_182894.3(VSX2):c.1047G>A (p.Ala349=) rs773050406 0.00002
NM_182894.3(VSX2):c.105G>A (p.Gln35=) rs1328835237 0.00002
NM_182894.3(VSX2):c.117C>A (p.Gly39=) rs747878344 0.00002
NM_182894.3(VSX2):c.78G>T (p.Pro26=) rs1176654437 0.00002
NM_182894.3(VSX2):c.819A>G (p.Glu273=) rs763828032 0.00002
NM_182894.3(VSX2):c.1023G>A (p.Glu341=) rs144219756 0.00001
NM_182894.3(VSX2):c.1026C>T (p.Ala342=) rs199528979 0.00001
NM_182894.3(VSX2):c.1083T>A (p.Ala361=) rs1438666657 0.00001
NM_182894.3(VSX2):c.135G>A (p.Pro45=) rs757604565 0.00001
NM_182894.3(VSX2):c.165C>A (p.Gly55=) rs1368230789 0.00001
NM_182894.3(VSX2):c.184C>T (p.Leu62=) rs769885076 0.00001
NM_182894.3(VSX2):c.189G>T (p.Ala63=) rs1205909190 0.00001
NM_182894.3(VSX2):c.18G>A (p.Gly6=) rs1365619857 0.00001
NM_182894.3(VSX2):c.240G>C (p.Gly80=) rs1004021129 0.00001
NM_182894.3(VSX2):c.246G>A (p.Gly82=) rs758201632 0.00001
NM_182894.3(VSX2):c.276C>A (p.Thr92=) rs1436176298 0.00001
NM_182894.3(VSX2):c.294C>G (p.Ser98=) rs770121550 0.00001
NM_182894.3(VSX2):c.306C>T (p.Ser102=) rs886050737 0.00001
NM_182894.3(VSX2):c.321A>G (p.Pro107=) rs776267544 0.00001
NM_182894.3(VSX2):c.360G>A (p.Thr120=) rs1175738409 0.00001
NM_182894.3(VSX2):c.371-14C>T rs750778630 0.00001
NM_182894.3(VSX2):c.397C>A (p.Arg133=) rs774922468 0.00001
NM_182894.3(VSX2):c.411A>G (p.Lys137=) rs774009999 0.00001
NM_182894.3(VSX2):c.455+10C>T rs1320338347 0.00001
NM_182894.3(VSX2):c.455+7C>T rs1455396762 0.00001
NM_182894.3(VSX2):c.531C>T (p.Ala177=) rs746590938 0.00001
NM_182894.3(VSX2):c.600A>C (p.Arg200=) rs536048201 0.00001
NM_182894.3(VSX2):c.603C>T (p.Ala201=) rs1357867541 0.00001
NM_182894.3(VSX2):c.606G>A (p.Lys202=) rs772078566 0.00001
NM_182894.3(VSX2):c.720C>T (p.Ala240=) rs576723592 0.00001
NM_182894.3(VSX2):c.72C>T (p.Gly24=) rs1034066804 0.00001
NM_182894.3(VSX2):c.778C>T (p.Leu260=) rs968609010 0.00001
NM_182894.3(VSX2):c.792C>T (p.Ala264=) rs769079054 0.00001
NM_182894.3(VSX2):c.840C>T (p.Leu280=) rs779385952 0.00001
NM_182894.3(VSX2):c.867C>T (p.Gly289=) rs906915228 0.00001
NM_182894.3(VSX2):c.870C>T (p.Pro290=) rs555041974 0.00001
NM_182894.3(VSX2):c.882G>A (p.Ala294=) rs1439064328 0.00001
NM_182894.3(VSX2):c.972G>T (p.Val324=) rs759625846 0.00001
NM_182894.3(VSX2):c.1002C>G (p.Thr334=) rs778183266
NM_182894.3(VSX2):c.1017G>A (p.Glu339=) rs2139646819
NM_182894.3(VSX2):c.1044G>A (p.Pro348=) rs747657718
NM_182894.3(VSX2):c.1056C>T (p.Leu352=) rs2139646872
NM_182894.3(VSX2):c.1074G>A (p.Glu358=) rs759821187
NM_182894.3(VSX2):c.1086G>A (p.Ter362=) rs1193237728
NM_182894.3(VSX2):c.117C>T (p.Gly39=) rs747878344
NM_182894.3(VSX2):c.126G>A (p.Lys42=)
NM_182894.3(VSX2):c.132C>G (p.Pro44=) rs2139628420
NM_182894.3(VSX2):c.135G>C (p.Pro45=)
NM_182894.3(VSX2):c.144C>T (p.His48=) rs1184273664
NM_182894.3(VSX2):c.147G>A (p.Pro49=)
NM_182894.3(VSX2):c.148C>A (p.Arg50=)
NM_182894.3(VSX2):c.156G>T (p.Ala52=) rs2139628459
NM_182894.3(VSX2):c.159C>T (p.Leu53=)
NM_182894.3(VSX2):c.162C>T (p.Asp54=) rs61747367
NM_182894.3(VSX2):c.166C>T (p.Leu56=) rs1594752524
NM_182894.3(VSX2):c.171C>T (p.Ala57=)
NM_182894.3(VSX2):c.174C>A (p.Pro58=)
NM_182894.3(VSX2):c.177G>A (p.Gly59=) rs2139628520
NM_182894.3(VSX2):c.177G>T (p.Gly59=)
NM_182894.3(VSX2):c.183G>A (p.Leu61=) rs2139628528
NM_182894.3(VSX2):c.189G>A (p.Ala63=)
NM_182894.3(VSX2):c.192G>A (p.Ala64=) rs2139628546
NM_182894.3(VSX2):c.192G>C (p.Ala64=)
NM_182894.3(VSX2):c.195C>T (p.Arg65=)
NM_182894.3(VSX2):c.198A>G (p.Ser66=)
NM_182894.3(VSX2):c.198A>T (p.Ser66=)
NM_182894.3(VSX2):c.201G>A (p.Val67=)
NM_182894.3(VSX2):c.201G>T (p.Val67=)
NM_182894.3(VSX2):c.210C>A (p.Pro70=) rs1387865406
NM_182894.3(VSX2):c.213G>C (p.Ala71=) rs763226203
NM_182894.3(VSX2):c.222C>A (p.Gly74=) rs200824722
NM_182894.3(VSX2):c.222C>T (p.Gly74=) rs200824722
NM_182894.3(VSX2):c.231G>A (p.Gly77=)
NM_182894.3(VSX2):c.231G>C (p.Gly77=)
NM_182894.3(VSX2):c.231G>T (p.Gly77=) rs753262258
NM_182894.3(VSX2):c.240G>A (p.Gly80=)
NM_182894.3(VSX2):c.240G>T (p.Gly80=)
NM_182894.3(VSX2):c.249G>T (p.Gly83=)
NM_182894.3(VSX2):c.24G>T (p.Ala8=)
NM_182894.3(VSX2):c.255T>C (p.Pro85=)
NM_182894.3(VSX2):c.267G>A (p.Thr89=) rs369629867
NM_182894.3(VSX2):c.288G>T (p.Val96=) rs1356908006
NM_182894.3(VSX2):c.294C>T (p.Ser98=) rs770121550
NM_182894.3(VSX2):c.297C>T (p.Asp99=)
NM_182894.3(VSX2):c.300G>A (p.Pro100=) rs769167146
NM_182894.3(VSX2):c.300G>T (p.Pro100=)
NM_182894.3(VSX2):c.318G>A (p.Gln106=) rs566968640
NM_182894.3(VSX2):c.327C>T (p.Gly109=) rs2139628758
NM_182894.3(VSX2):c.336G>C (p.Ser112=) rs752313464
NM_182894.3(VSX2):c.342G>A (p.Pro114=)
NM_182894.3(VSX2):c.351C>T (p.Thr117=) rs1594752649
NM_182894.3(VSX2):c.370+10G>A rs1196793036
NM_182894.3(VSX2):c.370+13A>G
NM_182894.3(VSX2):c.370+15G>A
NM_182894.3(VSX2):c.370+17dup
NM_182894.3(VSX2):c.370+18G>A
NM_182894.3(VSX2):c.370+20G>C
NM_182894.3(VSX2):c.370+9G>C
NM_182894.3(VSX2):c.371-10C>T
NM_182894.3(VSX2):c.371-12C>T
NM_182894.3(VSX2):c.371-13G>T
NM_182894.3(VSX2):c.371-18C>T
NM_182894.3(VSX2):c.371-19C>T
NM_182894.3(VSX2):c.371-9G>T rs753951803
NM_182894.3(VSX2):c.384T>A (p.Val128=)
NM_182894.3(VSX2):c.390C>T (p.Ser130=)
NM_182894.3(VSX2):c.414T>C (p.Ser138=)
NM_182894.3(VSX2):c.42C>A (p.Ser14=) rs1228326703
NM_182894.3(VSX2):c.444G>A (p.Lys148=)
NM_182894.3(VSX2):c.447G>T (p.Arg149=)
NM_182894.3(VSX2):c.448C>A (p.Arg150=) rs1211159091
NM_182894.3(VSX2):c.455+12G>T
NM_182894.3(VSX2):c.455+15_455+18del
NM_182894.3(VSX2):c.455+7C>A
NM_182894.3(VSX2):c.455+8C>T rs2139629961
NM_182894.3(VSX2):c.456-14C>T
NM_182894.3(VSX2):c.456-16G>A
NM_182894.3(VSX2):c.456-18C>T
NM_182894.3(VSX2):c.456-7C>T rs770570869
NM_182894.3(VSX2):c.456-9T>C rs2139633942
NM_182894.3(VSX2):c.459A>T (p.Thr153=) rs2139633961
NM_182894.3(VSX2):c.471C>A (p.Ser157=)
NM_182894.3(VSX2):c.474C>T (p.Tyr158=)
NM_182894.3(VSX2):c.480A>G (p.Leu160=) rs2139634010
NM_182894.3(VSX2):c.483G>A (p.Glu161=) rs143366810
NM_182894.3(VSX2):c.486G>A (p.Glu162=) rs2139634020
NM_182894.3(VSX2):c.48A>T (p.Thr16=) rs894661629
NM_182894.3(VSX2):c.51G>A (p.Val17=) rs2139628334
NM_182894.3(VSX2):c.525C>G (p.Val175=)
NM_182894.3(VSX2):c.525C>T (p.Val175=) rs2139634071
NM_182894.3(VSX2):c.531C>A (p.Ala177=) rs746590938
NM_182894.3(VSX2):c.552A>G (p.Lys184=) rs764023843
NM_182894.3(VSX2):c.555G>T (p.Thr185=)
NM_182894.3(VSX2):c.558G>A (p.Glu186=)
NM_182894.3(VSX2):c.564G>T (p.Pro188=) rs201354547
NM_182894.3(VSX2):c.570C>T (p.Asp190=) rs1594754663
NM_182894.3(VSX2):c.579+10C>T
NM_182894.3(VSX2):c.579+11T>C
NM_182894.3(VSX2):c.579+12G>T
NM_182894.3(VSX2):c.579+13A>C
NM_182894.3(VSX2):c.579+14G>A
NM_182894.3(VSX2):c.579+14G>T
NM_182894.3(VSX2):c.579+17C>A
NM_182894.3(VSX2):c.579+17C>G
NM_182894.3(VSX2):c.579+20C>T
NM_182894.3(VSX2):c.579+8C>A rs2139634151
NM_182894.3(VSX2):c.579+9C>A rs2139634155
NM_182894.3(VSX2):c.580-12G>A
NM_182894.3(VSX2):c.580-12G>T
NM_182894.3(VSX2):c.580-7C>T rs2139645813
NM_182894.3(VSX2):c.580-8A>G
NM_182894.3(VSX2):c.582C>T (p.Val194=)
NM_182894.3(VSX2):c.598C>A (p.Arg200=) rs768459071
NM_182894.3(VSX2):c.600A>G (p.Arg200=) rs536048201
NM_182894.3(VSX2):c.610A>C (p.Arg204=)
NM_182894.3(VSX2):c.612G>A (p.Arg204=) rs556122712
NM_182894.3(VSX2):c.616C>A (p.Arg206=) rs572797318
NM_182894.3(VSX2):c.618G>A (p.Arg206=) rs776836285
NM_182894.3(VSX2):c.627C>T (p.Cys209=)
NM_182894.3(VSX2):c.636G>A (p.Arg212=)
NM_182894.3(VSX2):c.642T>C (p.Ser214=)
NM_182894.3(VSX2):c.654G>A (p.Glu218=) rs139224826
NM_182894.3(VSX2):c.660G>A (p.Gly220=) rs1302796560
NM_182894.3(VSX2):c.669G>A (p.Gly223=) rs1180632472
NM_182894.3(VSX2):c.669G>T (p.Gly223=)
NM_182894.3(VSX2):c.684C>T (p.His228=)
NM_182894.3(VSX2):c.690C>T (p.Ile230=)
NM_182894.3(VSX2):c.696G>A (p.Leu232=)
NM_182894.3(VSX2):c.69G>A (p.Gly23=) rs1202074639
NM_182894.3(VSX2):c.6G>A (p.Thr2=) rs879245861
NM_182894.3(VSX2):c.6G>C (p.Thr2=) rs879245861
NM_182894.3(VSX2):c.702G>A (p.Glu234=)
NM_182894.3(VSX2):c.711C>T (p.Leu237=) rs2139645951
NM_182894.3(VSX2):c.754C>T (p.Leu252=)
NM_182894.3(VSX2):c.756A>G (p.Leu252=)
NM_182894.3(VSX2):c.757C>T (p.Leu253=) rs2139645982
NM_182894.3(VSX2):c.760+11G>A rs777886580
NM_182894.3(VSX2):c.760+12C>T
NM_182894.3(VSX2):c.760+15C>T
NM_182894.3(VSX2):c.760+18C>T
NM_182894.3(VSX2):c.760+7G>A rs778725287
NM_182894.3(VSX2):c.760+9C>T rs2139645991
NM_182894.3(VSX2):c.761-11A>C
NM_182894.3(VSX2):c.761-13C>A
NM_182894.3(VSX2):c.777G>T (p.Ser259=) rs371707151
NM_182894.3(VSX2):c.780G>A (p.Leu260=) rs1398648530
NM_182894.3(VSX2):c.78G>A (p.Pro26=) rs1176654437
NM_182894.3(VSX2):c.795G>A (p.Glu265=)
NM_182894.3(VSX2):c.804G>A (p.Arg268=) rs1208767289
NM_182894.3(VSX2):c.810C>G (p.Pro270=) rs759166720
NM_182894.3(VSX2):c.810C>T (p.Pro270=) rs759166720
NM_182894.3(VSX2):c.813G>A (p.Glu271=) rs762750114
NM_182894.3(VSX2):c.816G>C (p.Gly272=)
NM_182894.3(VSX2):c.829C>T (p.Leu277=)
NM_182894.3(VSX2):c.837G>A (p.Lys279=)
NM_182894.3(VSX2):c.840C>G (p.Leu280=)
NM_182894.3(VSX2):c.84G>A (p.Arg28=)
NM_182894.3(VSX2):c.867C>A (p.Gly289=)
NM_182894.3(VSX2):c.873C>T (p.Asp291=) rs146821562
NM_182894.3(VSX2):c.885C>T (p.Ala295=)
NM_182894.3(VSX2):c.921G>A (p.Ala307=) rs768286032
NM_182894.3(VSX2):c.930G>A (p.Arg310=)
NM_182894.3(VSX2):c.939T>G (p.Ala313=)
NM_182894.3(VSX2):c.948C>T (p.His316=) rs2139646741
NM_182894.3(VSX2):c.960G>A (p.Val320=)
NM_182894.3(VSX2):c.960G>T (p.Val320=)
NM_182894.3(VSX2):c.961C>T (p.Leu321=)
NM_182894.3(VSX2):c.969T>C (p.Thr323=)
NM_182894.3(VSX2):c.96C>T (p.Phe32=)
NM_182894.3(VSX2):c.972G>A (p.Val324=)
NM_182894.3(VSX2):c.975T>G (p.Ser325=)
NM_182894.3(VSX2):c.990G>A (p.Leu330=)
NM_182894.3(VSX2):c.994C>A (p.Arg332=) rs758917773
NM_182894.3(VSX2):c.996G>C (p.Arg332=)

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