ClinVar Miner

List of variants studied for congenital vitreoretinal dysplasia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 220
Download table as spreadsheet
HGVS dbSNP
NM_001079802.2(FKTN):c.*100G>A
NM_001079802.2(FKTN):c.*1010G>A
NM_001079802.2(FKTN):c.*1017A>G rs886063324
NM_001079802.2(FKTN):c.*1018T>A rs16924759
NM_001079802.2(FKTN):c.*1133A>G rs2768282
NM_001079802.2(FKTN):c.*1175C>T
NM_001079802.2(FKTN):c.*1229A>G
NM_001079802.2(FKTN):c.*1249C>T rs79589823
NM_001079802.2(FKTN):c.*1276C>T rs886063325
NM_001079802.2(FKTN):c.*1511A>G rs886063326
NM_001079802.2(FKTN):c.*1638A>G
NM_001079802.2(FKTN):c.*166A>G
NM_001079802.2(FKTN):c.*1681G>A rs886063327
NM_001079802.2(FKTN):c.*1843A>T
NM_001079802.2(FKTN):c.*1845G>T rs886063328
NM_001079802.2(FKTN):c.*2213A>G
NM_001079802.2(FKTN):c.*2254A>G
NM_001079802.2(FKTN):c.*2265T>C rs76003803
NM_001079802.2(FKTN):c.*2280T>C rs1024366
NM_001079802.2(FKTN):c.*2298C>G
NM_001079802.2(FKTN):c.*2427G>T
NM_001079802.2(FKTN):c.*2433G>A rs886063329
NM_001079802.2(FKTN):c.*2464G>A
NM_001079802.2(FKTN):c.*2505A>G rs367988702
NM_001079802.2(FKTN):c.*2508G>T rs886063330
NM_001079802.2(FKTN):c.*2516G>T rs886063331
NM_001079802.2(FKTN):c.*2592T>C
NM_001079802.2(FKTN):c.*2640G>C
NM_001079802.2(FKTN):c.*2674A>G
NM_001079802.2(FKTN):c.*2902C>T
NM_001079802.2(FKTN):c.*2904G>A rs138806979
NM_001079802.2(FKTN):c.*2910C>A rs148937517
NM_001079802.2(FKTN):c.*2984C>T rs886063332
NM_001079802.2(FKTN):c.*3046T>C rs886063333
NM_001079802.2(FKTN):c.*3156A>T rs886063334
NM_001079802.2(FKTN):c.*324G>C rs536822992
NM_001079802.2(FKTN):c.*3312T>G
NM_001079802.2(FKTN):c.*3352C>A
NM_001079802.2(FKTN):c.*3377A>G rs148172557
NM_001079802.2(FKTN):c.*3432dup rs879020291
NM_001079802.2(FKTN):c.*3460G>A
NM_001079802.2(FKTN):c.*3516T>C
NM_001079802.2(FKTN):c.*3547C>T rs886063336
NM_001079802.2(FKTN):c.*3778T>C
NM_001079802.2(FKTN):c.*3861T>C rs185745657
NM_001079802.2(FKTN):c.*3918A>G rs17316607
NM_001079802.2(FKTN):c.*3985C>T
NM_001079802.2(FKTN):c.*4238del rs776272545
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.*436C>T rs886063322
NM_001079802.2(FKTN):c.*4491T>C
NM_001079802.2(FKTN):c.*4501A>G
NM_001079802.2(FKTN):c.*4599G>A rs886063338
NM_001079802.2(FKTN):c.*462T>C
NM_001079802.2(FKTN):c.*4646A>G
NM_001079802.2(FKTN):c.*4705G>A
NM_001079802.2(FKTN):c.*4825T>C rs115155934
NM_001079802.2(FKTN):c.*4826A>G
NM_001079802.2(FKTN):c.*4908A>G
NM_001079802.2(FKTN):c.*4940C>G rs886063339
NM_001079802.2(FKTN):c.*5003T>G rs886063340
NM_001079802.2(FKTN):c.*5041G>A rs1854124
NM_001079802.2(FKTN):c.*5062G>A rs1854125
NM_001079802.2(FKTN):c.*5161C>T rs886063341
NM_001079802.2(FKTN):c.*5260G>T rs2010861
NM_001079802.2(FKTN):c.*5303dup rs879263714
NM_001079802.2(FKTN):c.*5356C>T rs553575648
NM_001079802.2(FKTN):c.*5517T>C rs114655654
NM_001079802.2(FKTN):c.*5578G>A rs41277801
NM_001079802.2(FKTN):c.*5618T>A rs1048215
NM_001079802.2(FKTN):c.*5817A>C rs886063343
NM_001079802.2(FKTN):c.*712C>T
NM_001079802.2(FKTN):c.*71C>T
NM_001079802.2(FKTN):c.*760A>C
NM_001079802.2(FKTN):c.*777C>A
NM_001079802.2(FKTN):c.*786T>G rs10978177
NM_001079802.2(FKTN):c.*79C>T
NM_001079802.2(FKTN):c.*806G>C
NM_001079802.2(FKTN):c.*818C>T rs79162268
NM_001079802.2(FKTN):c.*954T>A rs886063323
NM_001079802.2(FKTN):c.-114G>A
NM_001079802.2(FKTN):c.-136A>G rs886063318
NM_001079802.2(FKTN):c.-158G>C rs4742953
NM_001079802.2(FKTN):c.-39G>A
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.-77A>G rs188804693
NM_001079802.2(FKTN):c.-90del rs727502845
NM_001079802.2(FKTN):c.-96T>C rs151250905
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262
NM_001079802.2(FKTN):c.1188G>A (p.Lys396=) rs886063320
NM_001079802.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.2(FKTN):c.1337A>T (p.Asn446Ile) rs374912618
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.2(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319
NM_001079802.2(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.397A>G (p.Met133Val) rs569778463
NM_001079802.2(FKTN):c.445G>A (p.Gly149Arg) rs200686690
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001079802.2(FKTN):c.705A>G (p.Pro235=)
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116
NM_001079802.2(FKTN):c.910+7T>G
NM_004737.6(LARGE1):c.*100C>A rs567278765
NM_004737.6(LARGE1):c.*1201A>G rs11544101
NM_004737.6(LARGE1):c.*1235A>G rs1801820
NM_004737.6(LARGE1):c.*154C>A rs73399512
NM_004737.6(LARGE1):c.*207G>A rs16992036
NM_004737.6(LARGE1):c.*455C>T rs886057460
NM_004737.6(LARGE1):c.*479A>T rs886057459
NM_004737.6(LARGE1):c.*499G>A rs886057458
NM_004737.6(LARGE1):c.*501T>C rs886057457
NM_004737.6(LARGE1):c.*580C>T rs776235903
NM_004737.6(LARGE1):c.*740A>G rs116335813
NM_004737.6(LARGE1):c.*770A>T rs886057456
NM_004737.6(LARGE1):c.*796C>T rs144150303
NM_004737.6(LARGE1):c.*798G>A rs778063005
NM_004737.6(LARGE1):c.*823_*824dup rs140177888
NM_004737.6(LARGE1):c.*833A>G rs748248240
NM_004737.6(LARGE1):c.*849C>T rs149508241
NM_004737.6(LARGE1):c.*856G>A rs77663505
NM_004737.6(LARGE1):c.*921C>G rs16992034
NM_004737.6(LARGE1):c.*998A>G rs886057455
NM_004737.6(LARGE1):c.-121G>C rs114574565
NM_004737.6(LARGE1):c.-136T>G rs147343461
NM_004737.6(LARGE1):c.-145-9A>C rs759992064
NM_004737.6(LARGE1):c.-212G>C rs143403352
NM_004737.6(LARGE1):c.-240C>T rs3210587
NM_004737.6(LARGE1):c.-305C>T rs886057462
NM_004737.6(LARGE1):c.-310T>G rs886057463
NM_004737.6(LARGE1):c.-31G>A rs117199378
NM_004737.6(LARGE1):c.-334G>A rs185068235
NM_004737.6(LARGE1):c.-340T>G rs886057464
NM_004737.6(LARGE1):c.-34G>A rs759430272
NM_004737.6(LARGE1):c.-350A>G rs886057465
NM_004737.6(LARGE1):c.-355G>C rs886057466
NM_004737.6(LARGE1):c.-406C>A rs886057467
NM_004737.6(LARGE1):c.-422C>G rs886057468
NM_004737.6(LARGE1):c.-460C>G rs114106875
NM_004737.6(LARGE1):c.-462A>T rs535216289
NM_004737.6(LARGE1):c.-518G>A rs532736408
NM_004737.6(LARGE1):c.-543C>T rs886057469
NM_004737.6(LARGE1):c.-544G>T rs537756491
NM_004737.6(LARGE1):c.-63C>T rs16992986
NM_004737.6(LARGE1):c.1008T>C (p.Asp336=) rs115076367
NM_004737.6(LARGE1):c.1092C>T (p.Thr364=) rs144216539
NM_004737.6(LARGE1):c.1287C>T (p.Asn429=) rs561439887
NM_004737.6(LARGE1):c.1320C>T (p.Asp440=) rs772615481
NM_004737.6(LARGE1):c.1420G>A (p.Val474Ile) rs150861748
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004737.6(LARGE1):c.1599C>T (p.Ile533=) rs12627793
NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) rs34642406
NM_004737.6(LARGE1):c.1644C>T (p.Asn548=) rs113253213
NM_004737.6(LARGE1):c.165G>C (p.Thr55=) rs63446460
NM_004737.6(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) rs74550830
NM_004737.6(LARGE1):c.178C>T (p.Arg60Trp) rs142135345
NM_004737.6(LARGE1):c.1827A>G (p.Ser609=) rs11913417
NM_004737.6(LARGE1):c.1878-11G>T rs200819807
NM_004737.6(LARGE1):c.188A>G (p.Glu63Gly) rs539747006
NM_004737.6(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520
NM_004737.6(LARGE1):c.1962G>A (p.Glu654=) rs141089495
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.2073+11C>T rs774384587
NM_004737.6(LARGE1):c.2100C>T (p.Asn700=) rs17722172
NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) rs116164106
NM_004737.6(LARGE1):c.2208G>A (p.Gln736=) rs759427879
NM_004737.6(LARGE1):c.251G>C (p.Ser84Thr) rs398124184
NM_004737.6(LARGE1):c.26G>A (p.Arg9Gln) rs763697782
NM_004737.6(LARGE1):c.309C>T (p.Ser103=) rs59349720
NM_004737.6(LARGE1):c.435C>T (p.Ala145=) rs86487
NM_004737.6(LARGE1):c.506A>G (p.His169Arg) rs886057461
NM_004737.6(LARGE1):c.552G>A (p.Thr184=) rs8142483
NM_004737.6(LARGE1):c.576C>T (p.Pro192=) rs36002910
NM_004737.6(LARGE1):c.584G>A (p.Arg195His) rs147597912
NM_004737.6(LARGE1):c.857G>A (p.Arg286His) rs200035534
NM_004737.6(LARGE1):c.909T>G (p.Leu303=) rs563144239
NM_004737.6(LARGE1):c.99C>T (p.Ser33=) rs377353667
NM_004737.7(LARGE1):c.*1229G>A
NM_004737.7(LARGE1):c.*155C>T
NM_004737.7(LARGE1):c.*186C>T
NM_004737.7(LARGE1):c.*566G>A
NM_004737.7(LARGE1):c.*639T>G
NM_004737.7(LARGE1):c.*699G>A
NM_004737.7(LARGE1):c.*969G>A
NM_004737.7(LARGE1):c.*995T>C
NM_004737.7(LARGE1):c.-257G>A
NM_004737.7(LARGE1):c.-265C>A
NM_004737.7(LARGE1):c.-440C>G
NM_004737.7(LARGE1):c.-47C>T
NM_004737.7(LARGE1):c.-563T>C
NM_004737.7(LARGE1):c.-590C>T
NM_004737.7(LARGE1):c.1005+15T>G
NM_004737.7(LARGE1):c.1389C>T (p.Tyr463=)
NM_004737.7(LARGE1):c.1426C>A (p.Leu476Met)
NM_004737.7(LARGE1):c.1600G>A (p.Val534Met)
NM_004737.7(LARGE1):c.2070G>A (p.Val690=)
NM_004737.7(LARGE1):c.2073+12G>A
NM_004737.7(LARGE1):c.220G>A (p.Glu74Lys)
NM_004737.7(LARGE1):c.2212A>G (p.Met738Val)
NM_004737.7(LARGE1):c.227A>C (p.Asn76Thr)
NM_004737.7(LARGE1):c.230G>A (p.Arg77His)
NM_004737.7(LARGE1):c.460G>A (p.Val154Ile)
NM_004737.7(LARGE1):c.479T>G (p.Val160Gly)
NM_004737.7(LARGE1):c.492-6C>G
NM_006731.2(FKTN):c.-88-6T>C rs115730708
NM_006731.2(FKTN):c.-89+1G>T rs574535599
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.166-6A>G rs41277795
NM_006731.2(FKTN):c.207T>C (p.Asn69=) rs752921570
NM_006731.2(FKTN):c.910+14G>A rs76180538
NM_006731.2(FKTN):c.911-13A>G rs766103012
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678
NM_025099.6(CTC1):c.724_727del (p.Lys242fs) rs199473674

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