ClinVar Miner

List of variants in gene PAX6 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.141+1G>A rs1554985714 0.00001
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.1225+1G>T rs1554982537
NM_001368894.2(PAX6):c.1225+1_1225+8delinsC
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.241A>T (p.Arg81Ter) rs775355156
NM_001368894.2(PAX6):c.321del (p.Glu107fs) rs1554985335
NM_001368894.2(PAX6):c.349C>T (p.Arg117Ter) rs121907914
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.413del (p.Asn138fs) rs886041221
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.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.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_848del (p.Glu282fs)
NM_001368894.2(PAX6):c.866_867del (p.Arg289fs) rs1592415625
NM_001368894.2(PAX6):c.958+1G>C rs1057517783
NM_001368894.2(PAX6):c.958+2T>C rs1131691549
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

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