ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_000280.4(PAX6):c.1032+6T>G rs1131692316
NM_000280.4(PAX6):c.141+4A>G rs1131692290
NM_000280.4(PAX6):c.142-14C>G rs1131692291
NM_000280.4(PAX6):c.142-5T>G rs1131692292
NM_000280.4(PAX6):c.164A>C (p.Lys55Thr) rs1131692294
NM_000280.4(PAX6):c.19G>C (p.Gly7Arg) rs1131692285

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