ClinVar Miner

List of variants reported as likely pathogenic for Aniridia 1 by Wessex Regional Genetics Laboratory, Salisbury District Hospital

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.256G>T (p.Gly86Cys) rs759557055 0.00001
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.114_131del (p.Pro39_Arg44del) rs1592562717
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.212T>C (p.Leu71Pro) rs1592545972
NM_001368894.2(PAX6):c.216C>T (p.Gly72=) rs763807196
NM_001368894.2(PAX6):c.317G>C (p.Arg106Pro) rs769095184
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.425G>A (p.Arg142His) rs1592531953
NM_001368894.2(PAX6):c.425G>T (p.Arg142Leu) rs1592531953
NM_001368894.2(PAX6):c.51C>G (p.Asn17Lys) rs1388158419
NM_001368894.2(PAX6):c.53G>C (p.Gly18Ala) rs1592564366
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001368894.2(PAX6):c.723A>G (p.Lys241=) rs1592433022
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.94C>G (p.Leu32Val) rs1592563721

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