ClinVar Miner

List of variants in gene PAX6 reported as uncertain significance for aniridia

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.807+5C>T rs376564909 0.00014
NM_001368894.2(PAX6):c.957G>A (p.Pro319=) rs146433004 0.00013
NM_001368894.2(PAX6):c.958+4A>T rs765926181 0.00008
NM_001368894.2(PAX6):c.807+6G>A rs375134684 0.00003
NM_001368894.2(PAX6):c.538A>T (p.Thr180Ser) rs141021880 0.00002
NM_001368894.2(PAX6):c.956C>T (p.Pro319Leu) rs759150602 0.00002
NM_001368894.2(PAX6):c.-59G>T rs886048204 0.00001
NM_001368894.2(PAX6):c.1043G>C (p.Ser348Thr) rs749992296 0.00001
NM_001368894.2(PAX6):c.1121C>T (p.Thr374Ile) rs1361659182 0.00001
NM_001368894.2(PAX6):c.1130C>T (p.Ser377Leu) rs1411880763 0.00001
NM_001368894.2(PAX6):c.1142G>A (p.Arg381Gln) rs780115865 0.00001
NM_000280.4(PAX6):c.-125dup
NM_001368894.2(PAX6):c.-120_-118dup
NM_001368894.2(PAX6):c.-147_-146dup rs886048205
NM_001368894.2(PAX6):c.-52+1del rs1955943115
NM_001368894.2(PAX6):c.10+5G>T
NM_001368894.2(PAX6):c.1021A>G (p.Ser341Gly)
NM_001368894.2(PAX6):c.1031C>T (p.Pro344Leu)
NM_001368894.2(PAX6):c.1074+3A>G rs1592409561
NM_001368894.2(PAX6):c.1074+4A>G
NM_001368894.2(PAX6):c.1074+6T>C
NM_001368894.2(PAX6):c.1075C>T (p.Pro359Ser)
NM_001368894.2(PAX6):c.1081G>A (p.Val361Ile) rs1346292898
NM_001368894.2(PAX6):c.1141C>T (p.Arg381Trp)
NM_001368894.2(PAX6):c.1154C>T (p.Thr385Ile)
NM_001368894.2(PAX6):c.1159A>G (p.Thr387Ala)
NM_001368894.2(PAX6):c.115C>G (p.Pro39Ala)
NM_001368894.2(PAX6):c.1166dup (p.His390fs) rs756801119
NM_001368894.2(PAX6):c.1168C>A (p.His390Asn)
NM_001368894.2(PAX6):c.1182C>G (p.His394Gln)
NM_001368894.2(PAX6):c.1185G>T (p.Met395Ile)
NM_001368894.2(PAX6):c.1198A>G (p.Met400Val) rs1230504203
NM_001368894.2(PAX6):c.1225+4dup rs1592366970
NM_001368894.2(PAX6):c.124A>C (p.Ile42Leu)
NM_001368894.2(PAX6):c.141+3G>A
NM_001368894.2(PAX6):c.141+3G>C rs369243018
NM_001368894.2(PAX6):c.141G>T (p.Gln47His) rs2135147324
NM_001368894.2(PAX6):c.184-3C>T rs2135101861
NM_001368894.2(PAX6):c.184-8C>T rs886048203
NM_001368894.2(PAX6):c.185T>G (p.Val62Gly)
NM_001368894.2(PAX6):c.194G>A (p.Gly65Glu)
NM_001368894.2(PAX6):c.20G>T (p.Gly7Val) rs1190491499
NM_001368894.2(PAX6):c.245C>T (p.Pro82Leu) rs1953954636
NM_001368894.2(PAX6):c.249G>T (p.Arg83Ser) rs2135097990
NM_001368894.2(PAX6):c.257G>C (p.Gly86Ala)
NM_001368894.2(PAX6):c.262A>T (p.Ser88Cys) rs1565239425
NM_001368894.2(PAX6):c.274G>C (p.Val92Leu)
NM_001368894.2(PAX6):c.275T>A (p.Val92Glu) rs886042622
NM_001368894.2(PAX6):c.280A>G (p.Thr94Ala)
NM_001368894.2(PAX6):c.290T>C (p.Val97Ala) rs2135095172
NM_001368894.2(PAX6):c.297C>T (p.Ser99=) rs1064793223
NM_001368894.2(PAX6):c.336T>A (p.Phe112Leu) rs2135091755
NM_001368894.2(PAX6):c.350G>C (p.Arg117Pro)
NM_001368894.2(PAX6):c.367G>A (p.Glu123Lys)
NM_001368894.2(PAX6):c.370G>A (p.Gly124Arg)
NM_001368894.2(PAX6):c.373G>T (p.Val125Phe)
NM_001368894.2(PAX6):c.377G>A (p.Cys126Tyr)
NM_001368894.2(PAX6):c.399+136G>A rs1565237004
NM_001368894.2(PAX6):c.399+334G>A rs1565236383
NM_001368894.2(PAX6):c.399+3A>T rs2135086830
NM_001368894.2(PAX6):c.399C>T (p.Ser133=)
NM_001368894.2(PAX6):c.416G>C (p.Arg139Thr)
NM_001368894.2(PAX6):c.417A>C (p.Arg139Ser) rs1231578758
NM_001368894.2(PAX6):c.464G>A (p.Gly155Asp)
NM_001368894.2(PAX6):c.470A>G (p.Tyr157Cys) rs201983312
NM_001368894.2(PAX6):c.478C>G (p.Leu160Val)
NM_001368894.2(PAX6):c.493G>T (p.Gly165Trp) rs1299258202
NM_001368894.2(PAX6):c.512G>T (p.Gly171Val)
NM_001368894.2(PAX6):c.518G>A (p.Arg173His)
NM_001368894.2(PAX6):c.524G>A (p.Gly175Asp) rs1592530260
NM_001368894.2(PAX6):c.533C>T (p.Pro178Leu) rs954552997
NM_001368894.2(PAX6):c.541T>A (p.Ser181Thr) rs1592529768
NM_001368894.2(PAX6):c.553C>A (p.Gln185Lys) rs1131692308
NM_001368894.2(PAX6):c.556C>A (p.Pro186Thr) rs1049560370
NM_001368894.2(PAX6):c.556_564del (p.Pro186_Gln188del) rs747077748
NM_001368894.2(PAX6):c.56G>T (p.Arg19Leu) rs2135152943
NM_001368894.2(PAX6):c.574C>A (p.Gln192Lys)
NM_001368894.2(PAX6):c.585A>C (p.Glu195Asp)
NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) rs886048202
NM_001368894.2(PAX6):c.58C>T (p.Pro20Ser)
NM_001368894.2(PAX6):c.590G>C (p.Gly197Ala) rs541894561
NM_001368894.2(PAX6):c.593G>T (p.Gly198Val)
NM_001368894.2(PAX6):c.601A>T (p.Thr201Ser)
NM_001368894.2(PAX6):c.621C>A (p.Asn207Lys)
NM_001368894.2(PAX6):c.630T>G (p.Asp210Glu)
NM_001368894.2(PAX6):c.643C>A (p.Gln215Lys)
NM_001368894.2(PAX6):c.65C>T (p.Pro22Leu) rs1954533614
NM_001368894.2(PAX6):c.724+20T>C
NM_001368894.2(PAX6):c.724+3G>A
NM_001368894.2(PAX6):c.724+4del rs1131692311
NM_001368894.2(PAX6):c.724+8_724+9del
NM_001368894.2(PAX6):c.725-14A>G
NM_001368894.2(PAX6):c.725-8T>A
NM_001368894.2(PAX6):c.761G>A (p.Arg254Gln) rs2134611494
NM_001368894.2(PAX6):c.803T>G (p.Ile268Arg) rs2134610066
NM_001368894.2(PAX6):c.808G>T (p.Val270Leu) rs779126789
NM_001368894.2(PAX6):c.812G>C (p.Trp271Ser)
NM_001368894.2(PAX6):c.81G>C (p.Gln27His)
NM_001368894.2(PAX6):c.878G>A (p.Ser293Asn)
NM_001368894.2(PAX6):c.88G>A (p.Val30Ile)
NM_001368894.2(PAX6):c.934C>G (p.Pro312Ala)
NM_001368894.2(PAX6):c.949A>G (p.Thr317Ala) rs1326972158
NM_001368894.2(PAX6):c.95T>G (p.Leu32Arg) rs1954518916

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