ClinVar Miner

List of variants in gene PAX6 reported as likely pathogenic for aniridia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys) rs759557055 0.00001
NC_000011.9:g.(?_31824327)_(31826319_?)del
NM_001368894.2(PAX6):c.-118_-117del rs1554986858
NM_001368894.2(PAX6):c.-122dup rs2135311510
NM_001368894.2(PAX6):c.-52+1del rs1955943115
NM_001368894.2(PAX6):c.102_103del (p.His34fs)
NM_001368894.2(PAX6):c.1074+3_1074+6del rs2134572801
NM_001368894.2(PAX6):c.1074+6T>G rs1131692316
NM_001368894.2(PAX6):c.1075-3C>G rs886044223
NM_001368894.2(PAX6):c.107G>A (p.Gly36Glu) rs1592563636
NM_001368894.2(PAX6):c.107G>T (p.Gly36Val) rs1592563636
NM_001368894.2(PAX6):c.109G>C (p.Ala37Pro)
NM_001368894.2(PAX6):c.113G>C (p.Arg38Pro)
NM_001368894.2(PAX6):c.114_131del (p.Pro39_Arg44del) rs1592562717
NM_001368894.2(PAX6):c.1196del (p.Pro399fs)
NM_001368894.2(PAX6):c.1225+5G>T
NM_001368894.2(PAX6):c.125T>G (p.Ile42Ser) rs1592562910
NM_001368894.2(PAX6):c.128C>T (p.Ser43Phe) rs1592562836
NM_001368894.2(PAX6):c.140A>T (p.Gln47Leu)
NM_001368894.2(PAX6):c.141+4A>G rs1131692290
NM_001368894.2(PAX6):c.141G>T (p.Gln47His) rs2135147324
NM_001368894.2(PAX6):c.184-14C>G rs1131692291
NM_001368894.2(PAX6):c.184-5T>G rs1131692292
NM_001368894.2(PAX6):c.198T>G (p.Cys66Trp)
NM_001368894.2(PAX6):c.199G>C (p.Val67Leu)
NM_001368894.2(PAX6):c.19G>C (p.Gly7Arg) rs1131692285
NM_001368894.2(PAX6):c.206A>C (p.Lys69Thr) rs1131692294
NM_001368894.2(PAX6):c.212T>C (p.Leu71Pro) rs1592545972
NM_001368894.2(PAX6):c.216C>T (p.Gly72=) rs763807196
NM_001368894.2(PAX6):c.256G>C (p.Gly86Arg) rs759557055
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp) rs2135097306
NM_001368894.2(PAX6):c.269C>A (p.Pro90Gln) rs2135096558
NM_001368894.2(PAX6):c.269C>T (p.Pro90Leu) rs2135096558
NM_001368894.2(PAX6):c.317G>C (p.Arg106Pro) rs769095184
NM_001368894.2(PAX6):c.337G>A (p.Ala113Thr)
NM_001368894.2(PAX6):c.375C>A (p.Val125=) rs1592542705
NM_001368894.2(PAX6):c.391_399del (p.Ile131_Ser133del) rs1592542273
NM_001368894.2(PAX6):c.398del (p.Ser133fs)
NM_001368894.2(PAX6):c.399+1_399+2insATAACA
NM_001368894.2(PAX6):c.399+2T>G
NM_001368894.2(PAX6):c.399+5G>A rs1592542002
NM_001368894.2(PAX6):c.419T>A (p.Val140Asp) rs121907919
NM_001368894.2(PAX6):c.425G>A (p.Arg142His) rs1592531953
NM_001368894.2(PAX6):c.425G>T (p.Arg142Leu) rs1592531953
NM_001368894.2(PAX6):c.49_61del (p.Asn17fs)
NM_001368894.2(PAX6):c.50_60dup (p.Leu21fs)
NM_001368894.2(PAX6):c.51C>G (p.Asn17Lys) rs1388158419
NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)
NM_001368894.2(PAX6):c.53G>C (p.Gly18Ala) rs1592564366
NM_001368894.2(PAX6):c.573C>A (p.Cys191Ter) rs1554983586
NM_001368894.2(PAX6):c.62_65dup (p.Asp23fs) rs1954534591
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg) rs1592433640
NM_001368894.2(PAX6):c.723A>G (p.Lys241=) rs1592433022
NM_001368894.2(PAX6):c.724+1G>A
NM_001368894.2(PAX6):c.725-2A>G
NM_001368894.2(PAX6):c.725-5T>C rs1592421981
NM_001368894.2(PAX6):c.725-9C>G rs1592422097
NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly) rs121907913
NM_001368894.2(PAX6):c.76C>T (p.Arg26Trp) rs121907913
NM_001368894.2(PAX6):c.77G>A (p.Arg26Gln)
NM_001368894.2(PAX6):c.807G>A (p.Gln269=)
NM_001368894.2(PAX6):c.823dup (p.Arg275fs)
NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln) rs1950629763
NM_001368894.2(PAX6):c.844_848dup (p.Leu285fs)
NM_001368894.2(PAX6):c.850A>T (p.Lys284Ter)
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
NM_001368894.2(PAX6):c.94C>G (p.Leu32Val) rs1592563721
NM_001368894.2(PAX6):c.959-3C>G rs1057523821
NM_001368894.2(PAX6):c.959-3_959-2del

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