ClinVar Miner

List of variants in gene EPG5 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 131
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.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.4327C>T (p.Gln1443Ter) rs374321183 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_020964.2(EPG5):c.[1188delC;2598A>G]
NM_020964.2(EPG5):c.[1A>G;4108delC]
NM_020964.2(EPG5):c.[2461C>T;3582G>A]
NM_020964.2(EPG5):c.[2T>C;5792delT]
NM_020964.2(EPG5):c.[3044C>T;6766+1G>C]
NM_020964.2(EPG5):c.[3152C>G;4230G>A]
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.1252+1G>A
NM_020964.3(EPG5):c.1252+1G>T rs763788808
NM_020964.3(EPG5):c.1405dup (p.Arg469fs)
NM_020964.3(EPG5):c.1435_1438del (p.Phe478_Leu479insTer) rs762639913
NM_020964.3(EPG5):c.1501A>T (p.Lys501Ter) rs1203870830
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.2066del (p.Phe688_Leu689insTer) rs2050617604
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.2353dup (p.Ala785fs) rs1085308062
NM_020964.3(EPG5):c.2355del (p.Arg786fs)
NM_020964.3(EPG5):c.2413-2A>G
NM_020964.3(EPG5):c.2427del (p.Leu810fs) rs2145807103
NM_020964.3(EPG5):c.2449del (p.Ser817fs)
NM_020964.3(EPG5):c.2575G>T (p.Glu859Ter) rs587776941
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.3544G>T (p.Glu1182Ter) rs2145712492
NM_020964.3(EPG5):c.3590T>A (p.Leu1197Ter)
NM_020964.3(EPG5):c.3614del (p.Leu1205fs) rs1568150793
NM_020964.3(EPG5):c.3698G>A (p.Trp1233Ter) rs1555673917
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.4007G>A (p.Gly1336Glu) rs1085308061
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.4588C>T (p.Gln1530Ter) rs587776939
NM_020964.3(EPG5):c.4636C>T (p.Gln1546Ter)
NM_020964.3(EPG5):c.4719T>G (p.Tyr1573Ter)
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
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.5659_5660del (p.Asp1887fs) rs2049058963
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.5774del (p.Ala1925fs) rs2145393546
NM_020964.3(EPG5):c.582del (p.Asn194fs)
NM_020964.3(EPG5):c.5870-2A>G rs1599474108
NM_020964.3(EPG5):c.5938G>T (p.Glu1980Ter) rs763614919
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
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.6577del (p.Val2193fs) rs1599445663
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
Single allele

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.