ClinVar Miner

List of variants reported as benign for Vici syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP
NM_020964.3(EPG5):c.1009-10_1009-9dup rs148293118
NM_020964.3(EPG5):c.104G>A (p.Ser35Asn) rs145177562
NM_020964.3(EPG5):c.1254G>A (p.Ala418=) rs368735317
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) rs117817123
NM_020964.3(EPG5):c.1399C>T (p.Leu467=) rs145998030
NM_020964.3(EPG5):c.1461C>T (p.Pro487=) rs142675465
NM_020964.3(EPG5):c.1571+7G>A rs202014798
NM_020964.3(EPG5):c.18G>A (p.Lys6=) rs181345590
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154
NM_020964.3(EPG5):c.2257+10C>T rs202068698
NM_020964.3(EPG5):c.2259C>T (p.Asp753=) rs142253896
NM_020964.3(EPG5):c.2911T>G (p.Leu971Val) rs148777356
NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu) rs78339727
NM_020964.3(EPG5):c.3279C>T (p.Ser1093=) rs72918350
NM_020964.3(EPG5):c.3391A>G (p.Ile1131Val) rs3744997
NM_020964.3(EPG5):c.33C>G (p.Ala11=) rs539082493
NM_020964.3(EPG5):c.3436T>C (p.Leu1146=) rs9965714
NM_020964.3(EPG5):c.3493A>G (p.Ile1165Val) rs61744077
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=) rs200489622
NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu) rs139209033
NM_020964.3(EPG5):c.4584G>C (p.Leu1528Phe) rs199978382
NM_020964.3(EPG5):c.4629G>A (p.Leu1543=) rs182255496
NM_020964.3(EPG5):c.5070A>G (p.Thr1690=) rs35073566
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=) rs76331338
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=) rs200372908
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr) rs34977955
NM_020964.3(EPG5):c.5591G>A (p.Ser1864Asn) rs34064739
NM_020964.3(EPG5):c.5616C>T (p.Thr1872=) rs141282194
NM_020964.3(EPG5):c.5618A>T (p.Glu1873Val) rs148241618
NM_020964.3(EPG5):c.5653T>C (p.Leu1885=) rs114131140
NM_020964.3(EPG5):c.5700T>C (p.Phe1900=) rs34545102
NM_020964.3(EPG5):c.5954G>A (p.Arg1985Gln) rs34674177
NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met) rs200926094
NM_020964.3(EPG5):c.6162G>A (p.Thr2054=) rs368651243
NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=) rs114665741
NM_020964.3(EPG5):c.6522G>A (p.Pro2174=) rs148683476
NM_020964.3(EPG5):c.6622-23dup rs11333207
NM_020964.3(EPG5):c.6622-7del rs11333207
NM_020964.3(EPG5):c.6622-9_6622-7del rs11333207
NM_020964.3(EPG5):c.6939C>T (p.Cys2313=) rs774873040
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915
NM_020964.3(EPG5):c.780A>G (p.Leu260=) rs186213665

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.