ClinVar Miner

List of variants reported as pathogenic for Vici syndrome by Invitae

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ClinVar version:
Total variants: 109
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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.(?_43502287)_(43505888_?)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

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