ClinVar Miner

List of variants studied for Vici syndrome by Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020964.2(EPG5):c.[1188delC;2598A>G]
NM_020964.2(EPG5):c.[1A>G;4108delC]
NM_020964.2(EPG5):c.[2461C>T;3582G>A]
NM_020964.2(EPG5):c.[2T>C;5792delT]
NM_020964.2(EPG5):c.[3044C>T;6766+1G>C]
NM_020964.2(EPG5):c.[3152C>G;4230G>A]
Single allele

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