ClinVar Miner

List of variants reported as pathogenic for Aniridia 1; Irido-corneo-trabecular dysgenesis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 139
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.141+1G>A rs1554985714 0.00001
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys) rs759557055 0.00001
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 0.00001
NC_000011.10:g.(?_31664397)_(31794829_?)del
NC_000011.10:g.(?_31789914)_(31794829_?)del
NC_000011.10:g.(?_31789934)_(31806411_?)del
NC_000011.10:g.(?_31794610)_(31794829_?)del
NC_000011.9:g.(?_31284590)_(31824402_?)del
NC_000011.9:g.(?_31284590)_(31832374_?)del
NC_000011.9:g.(?_31284590)_(32456911_?)del
NC_000011.9:g.(?_31625295)_(31822424_?)del
NC_000011.9:g.(?_31804921)_(31812428_?)del
NC_000011.9:g.(?_31804921)_(31816356_?)del
NC_000011.9:g.(?_31804921)_(31816377_?)del
NC_000011.9:g.(?_31814966)_(31816356_?)del
NC_000011.9:g.(?_31815560)_(31824402_?)del
NC_000011.9:g.(?_31822233)_(31823148_?)del
NC_000011.9:g.(?_31824326)_(31832375_?)del
NM_000280.4(PAX6):c.358delG rs886042838
NM_001368894.2(PAX6):c.-118_-117del rs1554986858
NM_001368894.2(PAX6):c.-128-2del rs1131692282
NM_001368894.2(PAX6):c.-129+2T>A rs878852979
NM_001368894.2(PAX6):c.10+1G>A
NM_001368894.2(PAX6):c.1001_1002del (p.Thr334fs)
NM_001368894.2(PAX6):c.1009del (p.Thr337fs) rs1950537152
NM_001368894.2(PAX6):c.1024_1030del (p.Ala342fs) rs1950522383
NM_001368894.2(PAX6):c.102_106delinsAACC (p.His34fs) rs1565245835
NM_001368894.2(PAX6):c.102del (p.His34fs)
NM_001368894.2(PAX6):c.1038dup (p.Pro347fs)
NM_001368894.2(PAX6):c.1061del (p.Asn354fs) rs2134574071
NM_001368894.2(PAX6):c.1074+1G>C rs1950507886
NM_001368894.2(PAX6):c.1075-2A>G rs794726661
NM_001368894.2(PAX6):c.1086del (p.Ser363fs) rs1592369895
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter) rs1237278944
NM_001368894.2(PAX6):c.109del (p.Ala37fs) rs1057517780
NM_001368894.2(PAX6):c.1102_1106dup (p.Cys370fs) rs1554982609
NM_001368894.2(PAX6):c.1103dup (p.Tyr368Ter)
NM_001368894.2(PAX6):c.112C>T (p.Arg38Trp) rs397514640
NM_001368894.2(PAX6):c.112del (p.Arg38fs) rs1592563428
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter) rs1411880763
NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)
NM_001368894.2(PAX6):c.114_117dup (p.Cys40fs)
NM_001368894.2(PAX6):c.114del (p.Pro39fs)
NM_001368894.2(PAX6):c.114dup (p.Pro39fs) rs1565245598
NM_001368894.2(PAX6):c.115_116dup (p.Cys40fs) rs1592563240
NM_001368894.2(PAX6):c.117del (p.Cys40fs)
NM_001368894.2(PAX6):c.120C>A (p.Cys40Ter) rs1329112134
NM_001368894.2(PAX6):c.1225+5G>A rs1592366898
NM_001368894.2(PAX6):c.1225G>A (p.Gly409Arg) rs1131692318
NM_001368894.2(PAX6):c.1257_1263del (p.Gln420fs) rs1554982299
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe) rs1592562836
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.139C>T (p.Gln47Ter) rs1554985716
NM_001368894.2(PAX6):c.184-5T>G rs1131692292
NM_001368894.2(PAX6):c.1A>C (p.Met1Leu) rs1131692284
NM_001368894.2(PAX6):c.225C>A (p.Tyr75Ter) rs760490431
NM_001368894.2(PAX6):c.231_237del (p.Gly78fs) rs1953961273
NM_001368894.2(PAX6):c.256G>A (p.Gly86Ser)
NM_001368894.2(PAX6):c.27dup (p.Gln10fs)
NM_001368894.2(PAX6):c.28C>T (p.Gln10Ter) rs1954553083
NM_001368894.2(PAX6):c.307C>T (p.Gln103Ter) rs1131692297
NM_001368894.2(PAX6):c.319G>T (p.Glu107Ter)
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.358_359insA (p.Leu120fs) rs1953896100
NM_001368894.2(PAX6):c.359T>C (p.Leu120Ser)
NM_001368894.2(PAX6):c.35del (p.Gly12fs) rs1592564672
NM_001368894.2(PAX6):c.367G>T (p.Glu123Ter) rs1554985305
NM_001368894.2(PAX6):c.373del (p.Val125fs) rs1357628990
NM_001368894.2(PAX6):c.373dup (p.Val125fs) rs1357628990
NM_001368894.2(PAX6):c.385_386dup (p.Asp129fs) rs2135088191
NM_001368894.2(PAX6):c.399+1G>A rs398123295
NM_001368894.2(PAX6):c.399+1G>C rs398123295
NM_001368894.2(PAX6):c.399+2T>C rs2135086958
NM_001368894.2(PAX6):c.399+4A>T rs1554985282
NM_001368894.2(PAX6):c.3G>A (p.Met1Ile) rs1554986754
NM_001368894.2(PAX6):c.400-2A>T rs1592532580
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter) rs1554985100
NM_001368894.2(PAX6):c.415A>G (p.Arg139Gly)
NM_001368894.2(PAX6):c.417_418del (p.Arg139fs) rs1592532084
NM_001368894.2(PAX6):c.417del (p.Val140fs) rs2135051167
NM_001368894.2(PAX6):c.424C>T (p.Arg142Cys) rs121907918
NM_001368894.2(PAX6):c.425G>C (p.Arg142Pro) rs1592531953
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter) rs1131692304
NM_001368894.2(PAX6):c.44_45del (p.Phe15fs)
NM_001368894.2(PAX6):c.469dup (p.Tyr157fs)
NM_001368894.2(PAX6):c.47del (p.Val16fs)
NM_001368894.2(PAX6):c.483del (p.Met162fs) rs2135047165
NM_001368894.2(PAX6):c.495_496delinsTT (p.Gln166Ter) rs1953513506
NM_001368894.2(PAX6):c.496C>T (p.Gln166Ter)
NM_001368894.2(PAX6):c.49_54del (p.Asn17_Gly18del) rs1592564313
NM_001368894.2(PAX6):c.4C>T (p.Gln2Ter)
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter) rs1554985028
NM_001368894.2(PAX6):c.512del (p.Gly171fs) rs1554985024
NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter) rs1953478890
NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter) rs1057520755
NM_001368894.2(PAX6):c.52G>A (p.Gly18Arg) rs886044289
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_001368894.2(PAX6):c.532_536del (p.Pro178fs) rs1953470546
NM_001368894.2(PAX6):c.532_542delinsTCGGTA (p.Pro178fs)
NM_001368894.2(PAX6):c.537del (p.Thr180fs) rs1554984996
NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter) rs1131692308
NM_001368894.2(PAX6):c.560del (p.Thr187fs)
NM_001368894.2(PAX6):c.566-1G>T
NM_001368894.2(PAX6):c.578_579insC (p.Gln193fs) rs1554983577
NM_001368894.2(PAX6):c.580C>T (p.Gln194Ter) rs1554983571
NM_001368894.2(PAX6):c.598_599insCC (p.Asn200fs)
NM_001368894.2(PAX6):c.622G>T (p.Gly208Ter)
NM_001368894.2(PAX6):c.62_65dup (p.Asp23fs) rs1954534591
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001368894.2(PAX6):c.655C>T (p.Gln219Ter) rs121907924
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001368894.2(PAX6):c.66_75dup (p.Arg26fs)
NM_001368894.2(PAX6):c.684A>T (p.Arg228Ser)
NM_001368894.2(PAX6):c.690del (p.Phe231fs) rs2134656843
NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter) rs1131692309
NM_001368894.2(PAX6):c.709G>T (p.Glu237Ter) rs2134655427
NM_001368894.2(PAX6):c.720del (p.Glu242fs) rs2134654635
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) rs121907917
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp) rs121907913
NM_001368894.2(PAX6):c.787_807+102del
NM_001368894.2(PAX6):c.78del (p.Gln27fs) rs1131692286
NM_001368894.2(PAX6):c.790_806del (p.Pro264fs) rs2134609949
NM_001368894.2(PAX6):c.802_807+9del rs2134609369
NM_001368894.2(PAX6):c.803dup (p.Gln269fs)
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.829del (p.Ala277fs) rs2134595824
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter) rs1131692314
NM_001368894.2(PAX6):c.862C>T (p.Gln288Ter) rs1554983229
NM_001368894.2(PAX6):c.893dup (p.His298fs)
NM_001368894.2(PAX6):c.939dup (p.Pro314fs)
NM_001368894.2(PAX6):c.958+1G>A rs1057517783
NM_001368894.2(PAX6):c.959-1G>A rs1592412022
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter) rs1057517785
NM_001368894.2(PAX6):c.992dup (p.Thr332fs)
NM_001368894.2(PAX6):c.9_10insTACT (p.Ser4delinsTyrTer)

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.