ClinVar Miner

List of variants in gene PAX6 reported by Eye Genetics Research Group, Children's Medical Research Institute

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Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.1119del (p.Thr374fs) rs864309681
NM_001368894.2(PAX6):c.194G>T (p.Gly65Val) rs587778874
NM_001368894.2(PAX6):c.239T>A (p.Ile80Asn) rs864309686

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