ClinVar Miner

List of variants in gene PAX6 reported as pathogenic for not provided

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.141+1G>A rs1554985714 0.00001
NC_000011.10:g.31800857del rs886042838
NM_000280.6(PAX6):c.143T>C (p.Val48Ala) rs2135101631
NM_001368894.2(PAX6):c.-52+1G>A rs1592614756
NM_001368894.2(PAX6):c.1074+1G>A rs1950507886
NM_001368894.2(PAX6):c.1075-2A>G rs794726661
NM_001368894.2(PAX6):c.1081del (p.Val361fs) rs1131691426
NM_001368894.2(PAX6):c.1085_1095del (p.Pro362fs) rs1554982615
NM_001368894.2(PAX6):c.1090C>T (p.Gln364Ter) rs1237278944
NM_001368894.2(PAX6):c.109del (p.Ala37fs) rs1057517780
NM_001368894.2(PAX6):c.109dup (p.Ala37fs) rs1057517780
NM_001368894.2(PAX6):c.111delinsTAGCTCACA (p.Arg38fs) rs1592563502
NM_001368894.2(PAX6):c.112del (p.Arg38fs) rs1592563428
NM_001368894.2(PAX6):c.1225+1G>T rs1554982537
NM_001368894.2(PAX6):c.1225+1_1225+8delinsC
NM_001368894.2(PAX6):c.141+1G>C rs1554985714
NM_001368894.2(PAX6):c.141+2T>A
NM_001368894.2(PAX6):c.141+2T>G rs1057517782
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg) rs1131692293
NM_001368894.2(PAX6):c.201_204del (p.Ser68fs) rs1131691570
NM_001368894.2(PAX6):c.205A>T (p.Lys69Ter) rs1592546120
NM_001368894.2(PAX6):c.216C>T (p.Gly72=) rs763807196
NM_001368894.2(PAX6):c.225del (p.Tyr74_Tyr75insTer) rs2135099978
NM_001368894.2(PAX6):c.241A>T (p.Arg81Ter) rs775355156
NM_001368894.2(PAX6):c.301del (p.Lys100_Ile101insTer) rs1592544327
NM_001368894.2(PAX6):c.321del (p.Glu107fs) rs1554985335
NM_001368894.2(PAX6):c.330_331dup (p.Ile111fs) rs1953909830
NM_001368894.2(PAX6):c.341G>A (p.Trp114Ter) rs1554985320
NM_001368894.2(PAX6):c.342G>A (p.Trp114Ter) rs1131692300
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter) rs121907914
NM_001368894.2(PAX6):c.358_368delinsCCCCCCGTT (p.Leu120fs)
NM_001368894.2(PAX6):c.373_377del (p.Val125fs) rs1592542615
NM_001368894.2(PAX6):c.399+1G>A rs398123295
NM_001368894.2(PAX6):c.399+2dup rs1554985285
NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg) rs121907928
NM_001368894.2(PAX6):c.412_415del (p.Asn138fs)
NM_001368894.2(PAX6):c.413del (p.Asn138fs) rs886041221
NM_001368894.2(PAX6):c.463_464dup (p.Met156fs) rs1953535914
NM_001368894.2(PAX6):c.467del (p.Met156fs)
NM_001368894.2(PAX6):c.46del (p.Val16fs) rs398123296
NM_001368894.2(PAX6):c.509G>A (p.Trp170Ter) rs1131692306
NM_001368894.2(PAX6):c.524del (p.Gly175fs) rs886043350
NM_001368894.2(PAX6):c.527G>A (p.Trp176Ter) rs1953478890
NM_001368894.2(PAX6):c.531T>G (p.Tyr177Ter) rs1592530126
NM_001368894.2(PAX6):c.537_541dup (p.Ser181Ter) rs2135040318
NM_001368894.2(PAX6):c.54del (p.Arg19fs) rs2135153182
NM_001368894.2(PAX6):c.562C>T (p.Gln188Ter)
NM_001368894.2(PAX6):c.573C>A (p.Cys191Ter) rs1554983586
NM_001368894.2(PAX6):c.593del (p.Gly198fs) rs886041679
NM_001368894.2(PAX6):c.609dup (p.Ile204fs) rs773606401
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.734_735del (p.Arg245fs) rs2134613305
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>T rs1592416538
NM_001368894.2(PAX6):c.808-2A>C rs1554983251
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter) rs1131692314
NM_001368894.2(PAX6):c.844G>T (p.Glu282Ter) rs1554983238
NM_001368894.2(PAX6):c.844_845dup (p.Glu283fs)
NM_001368894.2(PAX6):c.844_848del (p.Glu282fs)
NM_001368894.2(PAX6):c.866_867del (p.Arg289fs) rs1592415625
NM_001368894.2(PAX6):c.921_936dup (p.Ile313fs) rs797044627
NM_001368894.2(PAX6):c.958+1G>C rs1057517783
NM_001368894.2(PAX6):c.958+2T>C rs1131691549
NM_001368894.2(PAX6):c.959-1G>A rs1592412022
NM_001368894.2(PAX6):c.959-3C>G rs1057523821
NM_001368894.2(PAX6):c.961del (p.Ser321fs) rs2134582202
NM_001368894.2(PAX6):c.991C>T (p.Arg331Ter) rs1057517785
NM_001368894.2(PAX6):c.994del (p.Thr332fs) rs1554983140

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