ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 233
Download table as spreadsheet
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
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer) rs1601610306
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter) rs1601613391
NM_001429.4(EP300):c.2251_2257del (p.Tyr751fs) rs1601618876
NM_001429.4(EP300):c.3367del (p.Met1124fs) rs1601624722
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs) rs1601624754
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter) rs1601634247
NM_001429.4(EP300):c.494_497del (p.Met165fs) rs1601598354
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) rs1555912040
NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs) rs1601640102
NM_001429.4(EP300):c.5747dup (p.Pro1917fs) rs1601640370
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp) rs1601642812
NM_004380.3(CREBBP):c.1044del (p.Glu349fs) rs1596948052
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter) rs1384496494
NM_004380.3(CREBBP):c.1124del (p.Gly375fs) rs1596947743
NM_004380.3(CREBBP):c.1127_1128dup (p.Val377fs) rs1596947732
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter) rs587783461
NM_004380.3(CREBBP):c.1216+2T>A rs1596947522
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs) rs1596944340
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter) rs1302427305
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter) rs587783464
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter) rs1596920745
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter) rs1596920501
NM_004380.3(CREBBP):c.1573+1G>A rs1596920360
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter) rs1596917200
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs) rs1597054837
NM_004380.3(CREBBP):c.1824-1G>A rs1596910004
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del) rs1596909791
NM_004380.3(CREBBP):c.1941+2T>C rs1596909656
NM_004380.3(CREBBP):c.2159-1G>T rs1596897799
NM_004380.3(CREBBP):c.2330del (p.Gly777fs) rs1596895500
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter) rs1597054662
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs) rs1596894889
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs) rs1596886295
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter) rs1596886132
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs) rs1596886048
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs) rs1596885894
NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs) rs1596885651
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs) rs1596882629
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter) rs1374436403
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs) rs1596882124
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter) rs1596882010
NM_004380.3(CREBBP):c.3060+1G>T rs1596882004
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter) rs1596878921
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs) rs1596878700
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer) rs1596856390
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs) rs1596856285
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs) rs1596856176
NM_004380.3(CREBBP):c.3369+1G>T rs587783480
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs) rs1596854369
NM_004380.3(CREBBP):c.3610-1G>C rs1596852670
NM_004380.3(CREBBP):c.3610-2A>G rs1596852674
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter) rs1596852578
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs) rs1596852463
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs) rs1596852443
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter) rs748451307
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter) rs1597054242
NM_004380.3(CREBBP):c.3779+1G>A rs587783483
NM_004380.3(CREBBP):c.3779+1G>T rs587783483
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs) rs1596834998
NM_004380.3(CREBBP):c.3836+1G>A rs200782888
NM_004380.3(CREBBP):c.3914+1G>A rs1555475352
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter) rs587783490
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs) rs1596813570
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter) rs1596812306
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter) rs1596812202
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter) rs1596810465
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs) rs1596805807
NM_004380.3(CREBBP):c.4644_4645del (p.Leu1549fs) rs1555472938
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup) rs1596804073
NM_004380.3(CREBBP):c.4728+2del rs1596803811
NM_004380.3(CREBBP):c.4890+1G>A rs1596793242
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs) rs1597053795
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs) rs1596786752
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs) rs1596786512
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs) rs587783507
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs) rs1596786219
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter) rs1567262537
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs) rs1596785514
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs) rs1596784713
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs) rs1596784713
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter) rs1597053504
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs) rs1596784310
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs) rs797045500
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs) rs1597053322
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs) rs1596984633
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter) rs1596948165
NM_023067.4(FOXL2):c.1103del (p.Gly368fs) rs1559921677
NM_023067.4(FOXL2):c.160A>G (p.Lys54Glu) rs1559922657
NM_023067.4(FOXL2):c.174_186del (p.Tyr59fs) rs1559922628
NM_023067.4(FOXL2):c.18del (p.Glu7fs) rs1559922829
NM_023067.4(FOXL2):c.377_380dup (p.Tyr127Ter) rs1559922476
NM_023067.4(FOXL2):c.384G>A (p.Trp128Ter) rs1559922472
NM_023067.4(FOXL2):c.384del (p.Tyr127_Trp128insTer) rs1559922473
NM_023067.4(FOXL2):c.387del (p.Leu130fs) rs1559922470
NM_023067.4(FOXL2):c.399del (p.Cys134fs) rs1559922462
NM_023067.4(FOXL2):c.445_469dup (p.Pro157fs) rs1559922381
NM_023067.4(FOXL2):c.525del (p.Cys176fs) rs1559922308
NM_023067.4(FOXL2):c.52_53del (p.Pro18fs) rs1559922782
NM_023067.4(FOXL2):c.549dup (p.Asp184fs) rs1559922261
NM_023067.4(FOXL2):c.551dup (p.Asp184fs) rs1559922257
NM_023067.4(FOXL2):c.55G>T (p.Glu19Ter) rs759236439
NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup) rs764243782
NM_023067.4(FOXL2):c.669_681del (p.Ala224fs) rs1559922136
NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup) rs387906321
NM_023067.4(FOXL2):c.675_769dup (p.Pro257fs) rs1559922033
NM_023067.4(FOXL2):c.773del (p.Tyr258fs) rs1559922026
NM_023067.4(FOXL2):c.784C>T (p.Gln262Ter) rs1559922013
NM_023067.4(FOXL2):c.804del (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter) rs1559921973
NM_023067.4(FOXL2):c.841_842insT (p.Pro281fs) rs1559921944
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023067.4(FOXL2):c.855_871del (p.Pro287fs) rs797044532
NM_023067.4(FOXL2):c.855_871dup (p.His291fs) rs797044532
NM_023067.4(FOXL2):c.901_911dup (p.Pro305fs) rs1559921874
NM_023067.4(FOXL2):c.935_997delinsGGCGGCGGCG (p.His312fs) rs1559921800
NM_023067.4(FOXL2):c.937_944dup (p.Ala316fs) rs1559921849
NM_023067.4(FOXL2):c.948_955del (p.Pro317fs) rs1576469579
NM_023067.4(FOXL2):c.965_983dup (p.Thr329fs) rs672601358
NM_023067.4(FOXL2):c.998dup (p.Ala334fs) rs1559921797

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.