ClinVar Miner

List of variants reported as uncertain significance for congenital primary aphakia by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val) rs201955081 0.00044
NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg) rs560327746 0.00029
NM_012186.3(FOXE3):c.166G>A (p.Ala56Thr) rs916755482 0.00009
NM_012186.3(FOXE3):c.269G>T (p.Arg90Leu) rs371048362 0.00009
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys) rs1030716081 0.00008
NM_012186.3(FOXE3):c.604C>T (p.Pro202Ser) rs1213749118 0.00008
NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly) rs768651099 0.00004
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) rs745571457 0.00004
NM_012186.3(FOXE3):c.404A>G (p.Glu135Gly) rs372281087 0.00004
NM_012186.3(FOXE3):c.605C>T (p.Pro202Leu) rs745950487 0.00004
NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr) rs886379083 0.00004
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser) rs112802909 0.00004
NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr) rs921860618 0.00004
NM_012186.3(FOXE3):c.838C>T (p.Pro280Ser) rs994486517 0.00004
NM_012186.3(FOXE3):c.625G>C (p.Gly209Arg) rs1226906213 0.00003
NM_012186.3(FOXE3):c.629C>G (p.Pro210Arg) rs780276474 0.00003
NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys) rs900562270 0.00002
NM_012186.3(FOXE3):c.191G>T (p.Arg64Leu) rs751816743 0.00002
NM_012186.3(FOXE3):c.19A>G (p.Met7Val) rs1300297197 0.00002
NM_012186.3(FOXE3):c.340A>C (p.Lys114Gln) rs768674287 0.00002
NM_012186.3(FOXE3):c.415C>G (p.Pro139Ala) rs768612848 0.00002
NM_012186.3(FOXE3):c.542G>A (p.Gly181Glu) rs754614447 0.00002
NM_012186.3(FOXE3):c.566C>T (p.Ala189Val) rs777536289 0.00002
NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser) rs1037554225 0.00002
NM_012186.3(FOXE3):c.956T>A (p.Leu319Gln) rs1308848565 0.00002
NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg) rs958293767 0.00001
NM_012186.3(FOXE3):c.431A>G (p.Tyr144Cys) rs747148416 0.00001
NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro) rs1401137576 0.00001
NM_012186.3(FOXE3):c.608C>A (p.Pro203Gln) rs1646887555 0.00001
NM_012186.3(FOXE3):c.663C>G (p.Ser221Arg) rs1304716566 0.00001
NM_012186.3(FOXE3):c.701C>T (p.Ala234Val) rs1646888269 0.00001
NM_012186.3(FOXE3):c.763G>A (p.Ala255Thr) rs911732099 0.00001
NM_012186.3(FOXE3):c.796C>T (p.Pro266Ser) rs1170907926 0.00001
NM_012186.3(FOXE3):c.830G>A (p.Gly277Asp) rs1189285117 0.00001
NM_012186.3(FOXE3):c.851A>G (p.Glu284Gly) rs956520813 0.00001
NM_012186.3(FOXE3):c.854C>A (p.Pro285His) rs1184373895 0.00001
NM_012186.3(FOXE3):c.893C>T (p.Pro298Leu) rs1570406106 0.00001
NM_012186.3(FOXE3):c.925C>A (p.Pro309Thr) rs1085307504 0.00001
NC_000001.10:g.(?_47716808)_(47882947_?)dup
NC_000001.11:g.47416279_47416517del rs2124040836
NM_012186.3(FOXE3):c.101G>T (p.Gly34Val)
NM_012186.3(FOXE3):c.128A>C (p.Glu43Ala) rs886042841
NM_012186.3(FOXE3):c.131C>A (p.Ala44Glu)
NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu)
NM_012186.3(FOXE3):c.134C>T (p.Ala45Val)
NM_012186.3(FOXE3):c.135_155del (p.Ala46_Ala52del) rs1415958869
NM_012186.3(FOXE3):c.145G>A (p.Gly49Arg)
NM_012186.3(FOXE3):c.151G>T (p.Ala51Ser) rs1366587048
NM_012186.3(FOXE3):c.163C>T (p.Pro55Ser)
NM_012186.3(FOXE3):c.167C>T (p.Ala56Val) rs2124041820
NM_012186.3(FOXE3):c.170C>G (p.Pro57Arg)
NM_012186.3(FOXE3):c.172G>C (p.Gly58Arg)
NM_012186.3(FOXE3):c.178G>T (p.Gly60Trp) rs1646883301
NM_012186.3(FOXE3):c.179GGC[5] (p.Arg65del)
NM_012186.3(FOXE3):c.179GGC[7] (p.Arg65dup) rs775343166
NM_012186.3(FOXE3):c.179GGC[8] (p.Arg65_Pro66insArgArg)
NM_012186.3(FOXE3):c.185G>C (p.Arg62Pro)
NM_012186.3(FOXE3):c.188G>C (p.Arg63Pro)
NM_012186.3(FOXE3):c.194G>C (p.Arg65Pro)
NM_012186.3(FOXE3):c.194G>T (p.Arg65Leu)
NM_012186.3(FOXE3):c.1A>T (p.Met1Leu)
NM_012186.3(FOXE3):c.204G>C (p.Gln68His) rs1646883579
NM_012186.3(FOXE3):c.214C>T (p.Pro72Ser)
NM_012186.3(FOXE3):c.217C>G (p.Pro73Ala)
NM_012186.3(FOXE3):c.22G>C (p.Asp8His) rs1646882092
NM_012186.3(FOXE3):c.258C>G (p.His86Gln)
NM_012186.3(FOXE3):c.265G>A (p.Gly89Ser)
NM_012186.3(FOXE3):c.266G>A (p.Gly89Asp) rs1289511554
NM_012186.3(FOXE3):c.272G>A (p.Arg91His)
NM_012186.3(FOXE3):c.273C>T (p.Arg91=)
NM_012186.3(FOXE3):c.283G>T (p.Ala95Ser) rs2124042280
NM_012186.3(FOXE3):c.296G>A (p.Arg99His)
NM_012186.3(FOXE3):c.2del (p.Met1fs) rs2124041028
NM_012186.3(FOXE3):c.310C>A (p.Arg104Ser)
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651
NM_012186.3(FOXE3):c.311G>C (p.Arg104Pro)
NM_012186.3(FOXE3):c.313T>C (p.Phe105Leu)
NM_012186.3(FOXE3):c.325C>T (p.Arg109Cys)
NM_012186.3(FOXE3):c.326G>A (p.Arg109His)
NM_012186.3(FOXE3):c.335C>A (p.Pro112Gln)
NM_012186.3(FOXE3):c.338G>C (p.Arg113Pro) rs779654261
NM_012186.3(FOXE3):c.341A>G (p.Lys114Arg) rs2124042559
NM_012186.3(FOXE3):c.351C>G (p.Asn117Lys) rs1057518737
NM_012186.3(FOXE3):c.353G>C (p.Ser118Thr)
NM_012186.3(FOXE3):c.358C>T (p.Arg120Cys) rs1646884682
NM_012186.3(FOXE3):c.374T>C (p.Leu125Pro) rs2124042635
NM_012186.3(FOXE3):c.39C>A (p.Phe13Leu)
NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)
NM_012186.3(FOXE3):c.413A>G (p.Asn138Ser) rs373777806
NM_012186.3(FOXE3):c.430T>C (p.Tyr144His)
NM_012186.3(FOXE3):c.460A>G (p.Met154Val)
NM_012186.3(FOXE3):c.470A>G (p.Asn157Ser)
NM_012186.3(FOXE3):c.487C>T (p.Arg163Cys) rs1389713794
NM_012186.3(FOXE3):c.488G>A (p.Arg163His)
NM_012186.3(FOXE3):c.490C>A (p.Arg164Ser) rs1391534565
NM_012186.3(FOXE3):c.491G>C (p.Arg164Pro)
NM_012186.3(FOXE3):c.496C>T (p.Arg166Cys)
NM_012186.3(FOXE3):c.498C>A (p.Arg166=)
NM_012186.3(FOXE3):c.502A>C (p.Lys168Gln)
NM_012186.3(FOXE3):c.505C>A (p.Arg169Ser)
NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr)
NM_012186.3(FOXE3):c.554C>T (p.Pro185Leu) rs2124043406
NM_012186.3(FOXE3):c.557T>C (p.Phe186Ser)
NM_012186.3(FOXE3):c.562T>C (p.Tyr188His)
NM_012186.3(FOXE3):c.562TACGCGCCC[1] (p.188YAP[1]) rs768610152
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3]) rs768610152
NM_012186.3(FOXE3):c.567_568delinsTT (p.Pro190Ser)
NM_012186.3(FOXE3):c.569C>T (p.Pro190Leu)
NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1]) rs1336140217
NM_012186.3(FOXE3):c.575CGCCCG[3] (p.Pro195_Gly196insAlaPro)
NM_012186.3(FOXE3):c.586G>A (p.Gly196Ser)
NM_012186.3(FOXE3):c.641C>T (p.Ala214Val)
NM_012186.3(FOXE3):c.642G>T (p.Ala214=)
NM_012186.3(FOXE3):c.64G>A (p.Val22Ile)
NM_012186.3(FOXE3):c.650T>C (p.Phe217Ser)
NM_012186.3(FOXE3):c.653G>T (p.Ser218Ile)
NM_012186.3(FOXE3):c.672C>G (p.Asn224Lys) rs1255205439
NM_012186.3(FOXE3):c.685C>A (p.Leu229Ile) rs2124043930
NM_012186.3(FOXE3):c.689C>G (p.Ala230Gly)
NM_012186.3(FOXE3):c.694C>G (p.Leu232Val)
NM_012186.3(FOXE3):c.703C>A (p.Pro235Thr)
NM_012186.3(FOXE3):c.706G>A (p.Glu236Lys)
NM_012186.3(FOXE3):c.709C>T (p.Pro237Ser) rs1646888724
NM_012186.3(FOXE3):c.712C>T (p.Pro238Ser) rs1327526761
NM_012186.3(FOXE3):c.717C>G (p.Cys239Trp)
NM_012186.3(FOXE3):c.724G>A (p.Ala242Thr)
NM_012186.3(FOXE3):c.733G>A (p.Ala245Thr)
NM_012186.3(FOXE3):c.742G>T (p.Ala248Ser)
NM_012186.3(FOXE3):c.754C>A (p.Pro252Thr)
NM_012186.3(FOXE3):c.756_779del (p.Cys253_Pro260del) rs761938618
NM_012186.3(FOXE3):c.773C>T (p.Ser258Phe)
NM_012186.3(FOXE3):c.776C>G (p.Pro259Arg)
NM_012186.3(FOXE3):c.77G>A (p.Gly26Glu) rs2124041379
NM_012186.3(FOXE3):c.781C>G (p.Leu261Val)
NM_012186.3(FOXE3):c.79C>T (p.Pro27Ser)
NM_012186.3(FOXE3):c.802C>A (p.Arg268Ser)
NM_012186.3(FOXE3):c.803G>C (p.Arg268Pro)
NM_012186.3(FOXE3):c.809T>A (p.Val270Glu)
NM_012186.3(FOXE3):c.812T>C (p.Leu271Pro) rs1351111614
NM_012186.3(FOXE3):c.822G>A (p.Thr274=)
NM_012186.3(FOXE3):c.823C>A (p.Arg275Ser)
NM_012186.3(FOXE3):c.824G>T (p.Arg275Leu)
NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)
NM_012186.3(FOXE3):c.835G>A (p.Gly279Ser)
NM_012186.3(FOXE3):c.839C>G (p.Pro280Arg)
NM_012186.3(FOXE3):c.844_850dup (p.Glu284delinsAlaArgTer) rs1476879051
NM_012186.3(FOXE3):c.854C>T (p.Pro285Leu) rs1184373895
NM_012186.3(FOXE3):c.871G>C (p.Gly291Arg)
NM_012186.3(FOXE3):c.872G>A (p.Gly291Glu)
NM_012186.3(FOXE3):c.877dup (p.Ala293fs)
NM_012186.3(FOXE3):c.880G>A (p.Ala294Thr)
NM_012186.3(FOXE3):c.883G>A (p.Ala295Thr)
NM_012186.3(FOXE3):c.88T>C (p.Ser30Pro)
NM_012186.3(FOXE3):c.922C>A (p.Gln308Lys)
NM_012186.3(FOXE3):c.926C>G (p.Pro309Arg)
NM_012186.3(FOXE3):c.92C>A (p.Pro31Gln)
NM_012186.3(FOXE3):c.932_944del (p.Phe311fs) rs2124045053
NM_012186.3(FOXE3):c.946G>A (p.Glu316Lys)
NM_012186.3(FOXE3):c.97G>A (p.Ala33Thr) rs1646882579

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