ClinVar Miner

List of variants reported as pathogenic for aniridia by Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-128-2del rs1131692282
NM_001368894.2(PAX6):c.1089_1092del (p.Ser363fs) rs1131692317
NM_001368894.2(PAX6):c.109dup (p.Ala37fs) rs1057517780
NM_001368894.2(PAX6):c.1225+2T>C rs1131692319
NM_001368894.2(PAX6):c.1225G>T (p.Gly409Ter) rs1131692318
NM_001368894.2(PAX6):c.125_126delinsC (p.Ile42fs) rs1131692287
NM_001368894.2(PAX6):c.130C>T (p.Arg44Ter) rs141873759
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001368894.2(PAX6):c.133_141+4del rs1554985709
NM_001368894.2(PAX6):c.140A>G (p.Gln47Arg) rs1131692289
NM_001368894.2(PAX6):c.193G>A (p.Gly65Arg) rs1131692293
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.226G>T (p.Glu76Ter) rs1131692295
NM_001368894.2(PAX6):c.286G>T (p.Glu96Ter) rs1131692296
NM_001368894.2(PAX6):c.307C>T (p.Gln103Ter) rs1131692297
NM_001368894.2(PAX6):c.333_336dup (p.Ala113fs) rs1131692298
NM_001368894.2(PAX6):c.335_340delinsGTTCA (p.Phe112fs) rs1131692299
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.395del (p.Pro132fs) rs1131692301
NM_001368894.2(PAX6):c.399C>G (p.Ser133Arg) rs121907928
NM_001368894.2(PAX6):c.409_415del (p.Ile137fs) rs1131692302
NM_001368894.2(PAX6):c.413del (p.Asn138fs) rs886041221
NM_001368894.2(PAX6):c.443del (p.Lys148fs) rs1131692303
NM_001368894.2(PAX6):c.445C>T (p.Gln149Ter) rs1131692304
NM_001368894.2(PAX6):c.491_495delinsCCGGAAC (p.Asn164fs) rs1131692305
NM_001368894.2(PAX6):c.509G>A (p.Trp170Ter) rs1131692306
NM_001368894.2(PAX6):c.533del (p.Pro178fs) rs1131692307
NM_001368894.2(PAX6):c.553C>T (p.Gln185Ter) rs1131692308
NM_001368894.2(PAX6):c.649C>T (p.Arg217Ter) rs121907916
NM_001368894.2(PAX6):c.703C>T (p.Gln235Ter) rs1131692309
NM_001368894.2(PAX6):c.725-1G>C rs1131692310
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) rs121907917
NM_001368894.2(PAX6):c.78del (p.Gln27fs) rs1131692286
NM_001368894.2(PAX6):c.802del (p.Ile268fs) rs1131692312
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001368894.2(PAX6):c.834dup (p.Trp279fs) rs1131692313
NM_001368894.2(PAX6):c.836G>A (p.Trp279Ter) rs1131692314
NM_001368894.2(PAX6):c.921del (p.Ser308fs) rs1131692315

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