ClinVar Miner

List of variants studied for Coloboma of optic nerve

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.*20_*21del (p.Ter437=) rs759391101
NM_001368894.2(PAX6):c.*21dup (p.Ter437=) rs759391101
NM_001368894.2(PAX6):c.1198A>G (p.Met400Val) rs1230504203
NM_001368894.2(PAX6):c.1301G>A (p.Arg434Lys) rs755181141
NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs) rs757946805
NM_001368894.2(PAX6):c.244C>T (p.Pro82Ser) rs121907923

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