ClinVar Miner

List of variants reported as pathogenic for isolated aniridia by Wessex Regional Genetics Laboratory, Salisbury District Hospital

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-128-2del rs1131692282
NM_001368894.2(PAX6):c.-129+2T>A rs878852979
NM_001368894.2(PAX6):c.-138_-129+3del rs1592654547
NM_001368894.2(PAX6):c.-52+1G>A rs1592614756
NM_001368894.2(PAX6):c.1020_1021del (p.Tyr340_Ser341delinsTer) rs1592410582
NM_001368894.2(PAX6):c.1052_1064dup (p.Leu355_Pro356insGlyLysTer) rs1592409736
NM_001368894.2(PAX6):c.1058_1061del (p.Asn353fs) rs1592409876
NM_001368894.2(PAX6):c.1075-1G>A rs1592370265
NM_001368894.2(PAX6):c.1079del (p.Pro360fs) rs1592370052
NM_001368894.2(PAX6):c.107_114dup (p.Pro39fs) rs1592563333
NM_001368894.2(PAX6):c.1086dup (p.Ser363fs) rs1592369895
NM_001368894.2(PAX6):c.109dup (p.Ala37fs) rs1057517780
NM_001368894.2(PAX6):c.11-2A>G rs1592564908
NM_001368894.2(PAX6):c.1100C>G (p.Ser367Ter) rs121907915
NM_001368894.2(PAX6):c.1103_1112del (p.Tyr368fs) rs1592369407
NM_001368894.2(PAX6):c.1104C>G (p.Tyr368Ter) rs1592369500
NM_001368894.2(PAX6):c.1119del (p.Thr374fs) rs864309681
NM_001368894.2(PAX6):c.112del (p.Arg38fs) rs1592563428
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter) rs1411880763
NM_001368894.2(PAX6):c.113_114dup (p.Pro39fs) rs1565245598
NM_001368894.2(PAX6):c.114dup (p.Pro39fs) rs1565245598
NM_001368894.2(PAX6):c.115_116dup (p.Cys40fs) rs1592563240
NM_001368894.2(PAX6):c.1202_1205del (p.Gly401fs) rs1592367623
NM_001368894.2(PAX6):c.1211del (p.Gly404fs) rs1592367444
NM_001368894.2(PAX6):c.121del (p.Asp41fs) rs1592563047
NM_001368894.2(PAX6):c.1225G>C (p.Gly409Arg) rs1131692318
NM_001368894.2(PAX6):c.1226-1G>C rs1592350356
NM_001368894.2(PAX6):c.1282dup (p.Met428fs) rs1592349567
NM_001368894.2(PAX6):c.1294_1308delinsACAGTAAA (p.Trp432fs) rs1592348542
NM_001368894.2(PAX6):c.1295_1304del (p.Trp432fs) rs1592348901
NM_001368894.2(PAX6):c.1309T>C (p.Ter437Gln) rs750848278
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.140A>C (p.Gln47Pro) rs1131692289
NM_001368894.2(PAX6):c.141+4A>T rs1131692290
NM_001368894.2(PAX6):c.184-1G>A rs1592546566
NM_001368894.2(PAX6):c.184-1_195dup rs1592546340
NM_001368894.2(PAX6):c.184-2A>G rs1592546589
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg) rs1131692293
NM_001368894.2(PAX6):c.19G>T (p.Gly7Ter) rs1131692285
NM_001368894.2(PAX6):c.200T>G (p.Val67Gly) rs1592546273
NM_001368894.2(PAX6):c.200_201del (p.Val67fs)
NM_001368894.2(PAX6):c.205A>T (p.Lys69Ter) rs1592546120
NM_001368894.2(PAX6):c.208del (p.Ile70fs) rs1592546024
NM_001368894.2(PAX6):c.225C>G (p.Tyr75Ter) rs760490431
NM_001368894.2(PAX6):c.233G>T (p.Gly78Val) rs121907920
NM_001368894.2(PAX6):c.246dup (p.Arg83fs) rs1592545392
NM_001368894.2(PAX6):c.288dup (p.Val97fs) rs1592544553
NM_001368894.2(PAX6):c.301del (p.Lys100_Ile101insTer) rs1592544327
NM_001368894.2(PAX6):c.323del (p.Cys108fs) rs1592543841
NM_001368894.2(PAX6):c.328_337del (p.Ser110fs) rs1592543499
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter) rs121907914
NM_001368894.2(PAX6):c.34G>C (p.Gly12Arg) rs1565246499
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter) rs1554985305
NM_001368894.2(PAX6):c.367_368delinsCAG (p.Glu123fs) rs1592542942
NM_001368894.2(PAX6):c.367del (p.Glu123fs) rs1592543032
NM_001368894.2(PAX6):c.372_373dup (p.Val125fs) rs1357628990
NM_001368894.2(PAX6):c.373del (p.Val125fs) rs1357628990
NM_001368894.2(PAX6):c.373dup (p.Val125fs) rs1357628990
NM_001368894.2(PAX6):c.387_393dup (p.Pro132Ter) rs1592542343
NM_001368894.2(PAX6):c.399+1G>A rs398123295
NM_001368894.2(PAX6):c.399_399+5del rs1592542060
NM_001368894.2(PAX6):c.400-1G>A rs1592532561
NM_001368894.2(PAX6):c.400-2A>G rs1592532580
NM_001368894.2(PAX6):c.407C>G (p.Ser136Ter) rs1554985100
NM_001368894.2(PAX6):c.415dup (p.Arg139fs) rs1592532169
NM_001368894.2(PAX6):c.417_418del (p.Arg139fs) rs1592532084
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys) rs121907918
NM_001368894.2(PAX6):c.47_57del (p.Val16fs) rs1592564219
NM_001368894.2(PAX6):c.4del (p.Gln2fs) rs1592610205
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter) rs1554985028
NM_001368894.2(PAX6):c.512_513insA (p.Thr172fs) rs1592530521
NM_001368894.2(PAX6):c.517del (p.Arg173fs) rs1592530379
NM_001368894.2(PAX6):c.531T>G (p.Tyr177Ter) rs1592530126
NM_001368894.2(PAX6):c.537del (p.Thr180fs) rs1554984996
NM_001368894.2(PAX6):c.542C>A (p.Ser181Ter) rs151086737
NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter) rs1131692308
NM_001368894.2(PAX6):c.566-14_567del rs1592435527
NM_001368894.2(PAX6):c.566-1G>A rs1592435632
NM_001368894.2(PAX6):c.566-2A>G rs1592435653
NM_001368894.2(PAX6):c.569del (p.Gly190fs) rs1592435423
NM_001368894.2(PAX6):c.62del (p.Leu21fs) rs1592564157
NM_001368894.2(PAX6):c.632del (p.Asp210_Ser211insTer) rs1592434096
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001368894.2(PAX6):c.66_75del (p.Asp23fs) rs1592564013
NM_001368894.2(PAX6):c.677_680del (p.Arg226fs) rs1592433606
NM_001368894.2(PAX6):c.682A>G (p.Arg228Gly) rs1592433545
NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter) rs1131692309
NM_001368894.2(PAX6):c.753_754del (p.Phe252fs) rs1592421398
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) rs121907917
NM_001368894.2(PAX6):c.807G>C (p.Gln269His) rs1592420967
NM_001368894.2(PAX6):c.808-1G>A rs1592416538
NM_001368894.2(PAX6):c.808-1G>C rs1592416538
NM_001368894.2(PAX6):c.812G>A (p.Trp271Ter) rs1592416453
NM_001368894.2(PAX6):c.817dup (p.Ser273fs) rs1592416305
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.834del (p.Lys278fs) rs1131692313
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter) rs1131692314
NM_001368894.2(PAX6):c.843del (p.Glu282fs) rs1592415958
NM_001368894.2(PAX6):c.846del (p.Glu283fs) rs1592415868
NM_001368894.2(PAX6):c.854_855del (p.Leu285fs) rs1592415745
NM_001368894.2(PAX6):c.871C>T (p.Gln291Ter) rs1592415563
NM_001368894.2(PAX6):c.951del (p.Thr318fs) rs1592414464
NM_001368894.2(PAX6):c.958+1G>A rs1057517783
NM_001368894.2(PAX6):c.958+1G>C rs1057517783
NM_001368894.2(PAX6):c.958+1G>T rs1057517783
NM_001368894.2(PAX6):c.959-1G>A rs1592412022
NM_001368894.2(PAX6):c.959-1G>C rs1592412022
NM_001368894.2(PAX6):c.967_968del (p.Phe323fs) rs1592411896
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter) rs1057517785

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