ClinVar Miner

List of variants studied for Vici syndrome by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn) rs202038268 0.00030
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_020964.3(EPG5):c.6155A>G (p.His2052Arg)
NM_020964.3(EPG5):c.6634A>G (p.Lys2212Glu)

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