ClinVar Miner

List of variants reported as likely pathogenic for Vici syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497 0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487 0.00001
NM_020964.3(EPG5):c.1678-1G>A rs755928939 0.00001
NM_020964.3(EPG5):c.1A>G (p.Met1Val) rs1135402732 0.00001
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 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.3477G>A (p.Trp1159Ter) rs2145713137
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.4387_4388del (p.Val1463fs) rs1599536432
NM_020964.3(EPG5):c.4475-1G>A
NM_020964.3(EPG5):c.4475-2A>C
NM_020964.3(EPG5):c.4665del (p.Glu1555fs) rs1057519318
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.4783C>T (p.Gln1595Ter) rs1568133724
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.5304+1G>A
NM_020964.3(EPG5):c.5479C>G (p.Pro1827Ala) rs1568118775
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp) rs759013844
NM_020964.3(EPG5):c.5943-2A>G
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.5966G>A (p.Trp1989Ter) rs1568112543
NM_020964.3(EPG5):c.5993C>G (p.Ser1998Ter) rs1568112516
NM_020964.3(EPG5):c.6049+2T>C
NM_020964.3(EPG5):c.6049+5G>A rs2048968935
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.6225+2T>C
NM_020964.3(EPG5):c.63+1G>T
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter) rs372940918

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.