ClinVar Miner

List of variants in gene PAX6 reported as pathogenic for corneal disorder

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 134
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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.(?_31794610)_(31794829_?)del
NC_000011.10:g.31800857del rs886042838
NC_000011.9:g.(?_31807092)_(31832375_?)del
NC_000011.9:g.(?_31809861)_(31814853_?)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_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.128C>T (p.Ser43Phe) rs1592562836
NM_001368894.2(PAX6):c.139C>T (p.Gln47Ter) rs1554985716
NM_001368894.2(PAX6):c.161T>A (p.Val54Asp) rs121907921
NM_001368894.2(PAX6):c.184-5T>G rs1131692292
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val) rs587778874
NM_001368894.2(PAX6):c.1A>C (p.Met1Leu) rs1131692284
NM_001368894.2(PAX6):c.1A>G (p.Met1Val) 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.38G>C (p.Gly13Ala) rs1954548195
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.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.828G>C (p.Arg276Ser) rs1950628459
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.959-2A>T rs587776571
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)

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