ClinVar Miner

List of variants reported as likely pathogenic for Aniridia 1 by Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.-122dup rs2135311510
NM_001368894.2(PAX6):c.1074+6T>G rs1131692316
NM_001368894.2(PAX6):c.141+4A>G rs1131692290
NM_001368894.2(PAX6):c.184-14C>G rs1131692291
NM_001368894.2(PAX6):c.184-5T>G rs1131692292
NM_001368894.2(PAX6):c.19G>C (p.Gly7Arg) rs1131692285
NM_001368894.2(PAX6):c.206A>C (p.Lys69Thr) rs1131692294

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