ClinVar Miner

List of variants reported as pathogenic for Vici syndrome by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 115
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter) rs183478189 0.00005
NM_020964.3(EPG5):c.2716C>T (p.Gln906Ter) rs756503608 0.00003
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter) rs587776942 0.00002
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497 0.00001
NM_020964.3(EPG5):c.1254del (p.Ser419fs) rs2050902019 0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487 0.00001
NM_020964.3(EPG5):c.2450C>A (p.Ser817Ter) rs908790331 0.00001
NM_020964.3(EPG5):c.2461C>T (p.Arg821Ter) rs759625169 0.00001
NM_020964.3(EPG5):c.2863C>T (p.Arg955Ter) rs761554022 0.00001
NM_020964.3(EPG5):c.5653_5654del (p.Leu1885fs) rs759930622 0.00001
NM_020964.3(EPG5):c.5869+1G>A rs748670315 0.00001
NM_020964.3(EPG5):c.7057C>T (p.Gln2353Ter) rs763931697 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.(?_43432432)_(43535324_?)del
NC_000018.9:g.(?_43456181)_(43456327_?)del
NC_000018.9:g.(?_43467696)_(43467892_?)del
NC_000018.9:g.(?_43495456)_(43497804_?)del
NC_000018.9:g.(?_43502287)_(43503373_?)del
NC_000018.9:g.(?_43502287)_(43505888_?)del
NC_000018.9:g.(?_43519546)_(43535324_?)del
NC_000018.9:g.(?_43547123)_(43547205_?)del
NM_020964.3(EPG5):c.1017_1018del (p.Ala340fs) rs2050937885
NM_020964.3(EPG5):c.102del (p.Ser35fs)
NM_020964.3(EPG5):c.1166C>G (p.Ser389Ter)
NM_020964.3(EPG5):c.1253-1G>A rs1470797555
NM_020964.3(EPG5):c.1351C>T (p.Gln451Ter)
NM_020964.3(EPG5):c.1405dup (p.Arg469fs)
NM_020964.3(EPG5):c.1435_1438del (p.Phe478_Leu479insTer) rs762639913
NM_020964.3(EPG5):c.1521del (p.Val509fs)
NM_020964.3(EPG5):c.1629_1630del (p.Gly544fs)
NM_020964.3(EPG5):c.1777_1781del (p.Leu592_Gly593insTer)
NM_020964.3(EPG5):c.1847_1859del (p.Ala615_Phe616insTer)
NM_020964.3(EPG5):c.1924C>T (p.Arg642Ter) rs912986968
NM_020964.3(EPG5):c.1991del (p.His664fs)
NM_020964.3(EPG5):c.2041del (p.Gln681fs) rs2145880933
NM_020964.3(EPG5):c.205C>T (p.Gln69Ter)
NM_020964.3(EPG5):c.2147_2150del (p.Ser716fs)
NM_020964.3(EPG5):c.2191dup (p.Glu731fs)
NM_020964.3(EPG5):c.2236C>T (p.Gln746Ter) rs2050481336
NM_020964.3(EPG5):c.2355del (p.Arg786fs)
NM_020964.3(EPG5):c.2427del (p.Leu810fs) rs2145807103
NM_020964.3(EPG5):c.2449del (p.Ser817fs)
NM_020964.3(EPG5):c.2662A>T (p.Lys888Ter) rs769833086
NM_020964.3(EPG5):c.2737C>T (p.Gln913Ter)
NM_020964.3(EPG5):c.277G>T (p.Glu93Ter)
NM_020964.3(EPG5):c.2953C>T (p.Gln985Ter)
NM_020964.3(EPG5):c.299_300del (p.Thr100fs)
NM_020964.3(EPG5):c.310_311dup (p.Glu105fs) rs1483969601
NM_020964.3(EPG5):c.3148C>T (p.Gln1050Ter)
NM_020964.3(EPG5):c.3200del (p.Leu1067fs)
NM_020964.3(EPG5):c.3210_3213del (p.Cys1071fs)
NM_020964.3(EPG5):c.3248C>A (p.Ser1083Ter)
NM_020964.3(EPG5):c.3325C>T (p.Gln1109Ter)
NM_020964.3(EPG5):c.333del (p.Cys112fs)
NM_020964.3(EPG5):c.3481C>T (p.Arg1161Ter) rs587776940
NM_020964.3(EPG5):c.3487C>T (p.Gln1163Ter)
NM_020964.3(EPG5):c.3493_3497del (p.Ile1165fs)
NM_020964.3(EPG5):c.3590T>A (p.Leu1197Ter)
NM_020964.3(EPG5):c.3614del (p.Leu1205fs) rs1568150793
NM_020964.3(EPG5):c.3762_3789dup (p.Ala1264delinsTyrTer) rs1555673890
NM_020964.3(EPG5):c.3785del (p.Asn1262fs)
NM_020964.3(EPG5):c.3859C>T (p.Gln1287Ter)
NM_020964.3(EPG5):c.3882_3883del (p.Trp1294fs)
NM_020964.3(EPG5):c.3937C>T (p.Gln1313Ter) rs986592823
NM_020964.3(EPG5):c.4020dup (p.Gln1341fs) rs2145667073
NM_020964.3(EPG5):c.4051G>T (p.Glu1351Ter)
NM_020964.3(EPG5):c.4132G>T (p.Glu1378Ter)
NM_020964.3(EPG5):c.424G>T (p.Glu142Ter) rs190673127
NM_020964.3(EPG5):c.4286del (p.His1429fs) rs1568142333
NM_020964.3(EPG5):c.4391del (p.Gly1464fs)
NM_020964.3(EPG5):c.4499T>A (p.Leu1500Ter)
NM_020964.3(EPG5):c.4636C>T (p.Gln1546Ter)
NM_020964.3(EPG5):c.4719T>G (p.Tyr1573Ter)
NM_020964.3(EPG5):c.486_491del (p.Tyr162_Gln164delinsTer)
NM_020964.3(EPG5):c.4876C>T (p.Gln1626Ter)
NM_020964.3(EPG5):c.5022_5023insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAGCCTTTTCTTT (p.Thr1675delinsPhePhePhePhePhePheXaaXaaXaaXaaThrSerTer) rs2145474267
NM_020964.3(EPG5):c.5045_5057dup (p.Arg1686_His1687insTer)
NM_020964.3(EPG5):c.5107C>T (p.Gln1703Ter)
NM_020964.3(EPG5):c.5110-1G>C
NM_020964.3(EPG5):c.5322del (p.Trp1774fs)
NM_020964.3(EPG5):c.5382_5388del (p.Ala1795fs) rs2145422618
NM_020964.3(EPG5):c.5389dup (p.Thr1797fs)
NM_020964.3(EPG5):c.5472C>G (p.Tyr1824Ter)
NM_020964.3(EPG5):c.5544del (p.Glu1849fs)
NM_020964.3(EPG5):c.5564_5565del (p.Leu1855fs)
NM_020964.3(EPG5):c.5576del (p.Gly1859fs)
NM_020964.3(EPG5):c.5617G>T (p.Glu1873Ter) rs370720753
NM_020964.3(EPG5):c.5660_5664del (p.Asp1887fs)
NM_020964.3(EPG5):c.5669dup (p.Met1891fs)
NM_020964.3(EPG5):c.5683C>T (p.Gln1895Ter)
NM_020964.3(EPG5):c.5704dup (p.Tyr1902fs)
NM_020964.3(EPG5):c.582del (p.Asn194fs)
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter) rs763614919
NM_020964.3(EPG5):c.5962_5968del (p.Tyr1987_Pro1988insTer)
NM_020964.3(EPG5):c.5971G>T (p.Glu1991Ter)
NM_020964.3(EPG5):c.6020_6021del (p.Cys2007fs) rs1064795230
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_020964.3(EPG5):c.6218del (p.Phe2073fs)
NM_020964.3(EPG5):c.631A>T (p.Arg211Ter)
NM_020964.3(EPG5):c.6353_6356del (p.Val2118fs) rs1599447883
NM_020964.3(EPG5):c.6377T>G (p.Leu2126Ter)
NM_020964.3(EPG5):c.6410_6411del (p.Thr2137fs)
NM_020964.3(EPG5):c.6419dup (p.Leu2141fs)
NM_020964.3(EPG5):c.6541G>T (p.Glu2181Ter)
NM_020964.3(EPG5):c.6689del (p.Asn2230fs)
NM_020964.3(EPG5):c.671_672insCAGC (p.Gly225fs)
NM_020964.3(EPG5):c.6724del (p.Met2242fs)
NM_020964.3(EPG5):c.6885G>A (p.Trp2295Ter) rs772325682
NM_020964.3(EPG5):c.6898dup (p.Met2300fs)
NM_020964.3(EPG5):c.7156G>T (p.Glu2386Ter) rs373944025
NM_020964.3(EPG5):c.721C>T (p.Arg241Ter) rs372940918
NM_020964.3(EPG5):c.7459C>T (p.Arg2487Ter) rs2145173322

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.