ClinVar Miner

List of variants in gene PAX6 reported as likely pathogenic

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys) rs759557055 0.00001
NM_000280.4:c.1267A>T
NM_000280.6(PAX6):c.143T>C (p.Val48Ala) rs2135101631
NM_001368894.2(PAX6):c.-118_-117del rs1554986858
NM_001368894.2(PAX6):c.-122dup rs2135311510
NM_001368894.2(PAX6):c.1020C>G (p.Tyr340Ter) rs786205467
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.112C>G (p.Arg38Gly) rs397514640
NM_001368894.2(PAX6):c.1130C>A (p.Ser377Ter) rs1411880763
NM_001368894.2(PAX6):c.113G>A (p.Arg38Gln)
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.1166dup (p.His390fs) rs756801119
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.141+4A>G rs1131692290
NM_001368894.2(PAX6):c.141G>T (p.Gln47His) rs2135147324
NM_001368894.2(PAX6):c.142-3T>C
NM_001368894.2(PAX6):c.184-14C>G rs1131692291
NM_001368894.2(PAX6):c.184-5T>G rs1131692292
NM_001368894.2(PAX6):c.184G>T (p.Val62Leu)
NM_001368894.2(PAX6):c.188C>A (p.Ser63Tyr) rs1554985430
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val) rs587778874
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.219G>T (p.Arg73Ser)
NM_001368894.2(PAX6):c.220T>A (p.Tyr74Asn)
NM_001368894.2(PAX6):c.239T>A (p.Ile80Asn) rs864309686
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.297C>T (p.Ser99=) rs1064793223
NM_001368894.2(PAX6):c.302T>G (p.Ile101Arg)
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.399+5G>A rs1592542002
NM_001368894.2(PAX6):c.399C>A (p.Ser133Arg) rs121907928
NM_001368894.2(PAX6):c.407C>A (p.Ser136Ter) rs1554985100
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.50_60dup (p.Leu21fs)
NM_001368894.2(PAX6):c.51C>G (p.Asn17Lys) rs1388158419
NM_001368894.2(PAX6):c.528G>A (p.Trp176Ter) rs1057520755
NM_001368894.2(PAX6):c.52G>C (p.Gly18Arg) rs886044289
NM_001368894.2(PAX6):c.52G>T (p.Gly18Trp)
NM_001368894.2(PAX6):c.53G>C (p.Gly18Ala) rs1592564366
NM_001368894.2(PAX6):c.674A>G (p.Gln225Arg) rs1592433640
NM_001368894.2(PAX6):c.683G>C (p.Arg228Thr) rs2134657107
NM_001368894.2(PAX6):c.723A>G (p.Lys241=) rs1592433022
NM_001368894.2(PAX6):c.724+1G>A
NM_001368894.2(PAX6):c.724G>A (p.Glu242Lys) rs1592432969
NM_001368894.2(PAX6):c.725-5T>C rs1592421981
NM_001368894.2(PAX6):c.725-9C>G rs1592422097
NM_001368894.2(PAX6):c.745C>A (p.Pro249Thr)
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.807G>A (p.Gln269=)
NM_001368894.2(PAX6):c.824G>A (p.Arg275Gln) rs1950629763
NM_001368894.2(PAX6):c.86T>C (p.Ile29Thr)
NM_001368894.2(PAX6):c.94C>G (p.Leu32Val) rs1592563721
NM_001368894.2(PAX6):c.959-1G>A rs1592412022
NM_001368894.2(PAX6):c.959-3C>G rs1057523821
NM_001368894.2(PAX6):c.959-3_959-2del
NM_001368894.2(PAX6):c.959-9T>A rs1057517784

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