ClinVar Miner

List of variants studied for Vici syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NC_000018.9:g.43547114_43604673del
NM_020964.3(EPG5):c.5490C>A (p.Tyr1830Ter) rs2511591415
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194

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