ClinVar Miner

List of variants in gene PAX6 reported by Clinical Genetics and Genomics, Karolinska University Hospital

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.330_331dup (p.Ile111fs) rs1953909830
NM_001368894.2(PAX6):c.342G>A (p.Trp114Ter) rs1131692300
NM_001368894.2(PAX6):c.463_464dup (p.Met156fs) rs1953535914
NM_001368894.2(PAX6):c.760C>T (p.Arg254Ter) rs121907917

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