ClinVar Miner

List of variants reported as likely pathogenic for Vici syndrome by Invitae

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.1678-1G>A rs755928939 0.00001
NM_020964.3(EPG5):c.1A>G (p.Met1Val) rs1135402732 0.00001
NC_000018.9:g.(?_43437798)_(43469925_?)dup
NC_000018.9:g.(?_43464697)_(43468959_?)del
NC_000018.9:g.(?_43523107)_(43524105_?)dup
NM_020964.3(EPG5):c.1389+2T>G
NM_020964.3(EPG5):c.1497+1G>T rs886043244
NM_020964.3(EPG5):c.2695_2718+32del
NM_020964.3(EPG5):c.2719-1G>C
NM_020964.3(EPG5):c.2839-1G>T
NM_020964.3(EPG5):c.3098+2T>C rs1599578081
NM_020964.3(EPG5):c.3693+2_3693+5del rs2050008898
NM_020964.3(EPG5):c.3817-2A>G
NM_020964.3(EPG5):c.4184_4205+5del
NM_020964.3(EPG5):c.4475-1G>A
NM_020964.3(EPG5):c.4475-2A>C
NM_020964.3(EPG5):c.4809+1G>A
NM_020964.3(EPG5):c.4952+1G>A rs2049301523
NM_020964.3(EPG5):c.5110-2A>G
NM_020964.3(EPG5):c.5943-2A>G
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.6049+2T>C
NM_020964.3(EPG5):c.6049+5G>A rs2048968935
NM_020964.3(EPG5):c.6225+2T>C
NM_020964.3(EPG5):c.63+1G>T

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