ClinVar Miner

List of variants in gene EPG5 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu) rs139209033 0.00133
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966 0.00053
NM_020964.3(EPG5):c.683C>A (p.Pro228Gln) rs200151675 0.00048
NM_020964.3(EPG5):c.4152C>G (p.His1384Gln) rs200079588 0.00035
NM_020964.3(EPG5):c.2189T>C (p.Val730Ala) rs549760994 0.00028
NM_020964.3(EPG5):c.1539G>T (p.Met513Ile) rs369120436 0.00022
NM_020964.3(EPG5):c.1944-3C>T rs376498905 0.00022
NM_020964.3(EPG5):c.4222A>G (p.Ile1408Val) rs369984684 0.00019
NM_020964.3(EPG5):c.2881G>A (p.Glu961Lys) rs200744548 0.00018
NM_020964.3(EPG5):c.5146G>A (p.Val1716Ile) rs370311674 0.00017
NM_020964.3(EPG5):c.1830G>A (p.Met610Ile) rs200214318 0.00012
NM_020964.3(EPG5):c.6839C>T (p.Ala2280Val) rs200754523 0.00011
NM_020964.3(EPG5):c.7202A>G (p.Lys2401Arg) rs137887553 0.00011
NM_020964.3(EPG5):c.6037G>A (p.Glu2013Lys) rs374158728 0.00010
NM_020964.3(EPG5):c.3791C>T (p.Ala1264Val) rs374324769 0.00009
NM_020964.3(EPG5):c.4766G>A (p.Ser1589Asn) rs201062477 0.00009
NM_020964.3(EPG5):c.1119G>T (p.Glu373Asp) rs371484691 0.00008
NM_020964.3(EPG5):c.407A>G (p.Lys136Arg) rs199571302 0.00008
NM_020964.3(EPG5):c.1948A>G (p.Thr650Ala) rs371884344 0.00006
NM_020964.3(EPG5):c.4034A>G (p.His1345Arg) rs200456950 0.00006
NM_020964.3(EPG5):c.7726G>A (p.Asp2576Asn) rs200967600 0.00006
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter) rs183478189 0.00005
NM_020964.3(EPG5):c.3303A>C (p.Gln1101His) rs201545867 0.00005
NM_020964.3(EPG5):c.6215C>G (p.Ala2072Gly) rs764464544 0.00005
NM_020964.3(EPG5):c.6526A>G (p.Ile2176Val) rs201095962 0.00005
NM_020964.3(EPG5):c.1531C>G (p.His511Asp) rs762634619 0.00004
NM_020964.3(EPG5):c.2187G>C (p.Gln729His) rs575623740 0.00004
NM_020964.3(EPG5):c.4559C>T (p.Pro1520Leu) rs375867560 0.00004
NM_020964.3(EPG5):c.5981C>T (p.Thr1994Ile) rs777008903 0.00004
NM_020964.3(EPG5):c.6049+4G>A rs200936655 0.00004
NM_020964.3(EPG5):c.6148G>A (p.Ala2050Thr) rs746878988 0.00004
NM_020964.3(EPG5):c.1663G>A (p.Glu555Lys) rs1229414685 0.00003
NM_020964.3(EPG5):c.1811C>G (p.Thr604Arg) rs373011809 0.00003
NM_020964.3(EPG5):c.1903C>T (p.Arg635Cys) rs764895705 0.00003
NM_020964.3(EPG5):c.4205G>A (p.Arg1402Lys) rs749547713 0.00003
NM_020964.3(EPG5):c.6785G>A (p.Arg2262His) rs375960377 0.00003
NM_020964.3(EPG5):c.1782T>G (p.Phe594Leu) rs888785002 0.00002
NM_020964.3(EPG5):c.3964C>T (p.Arg1322Cys) rs201983775 0.00002
NM_020964.3(EPG5):c.4367A>G (p.Tyr1456Cys) rs761064074 0.00002
NM_020964.3(EPG5):c.6632C>T (p.Pro2211Leu) rs769830823 0.00002
NM_020964.3(EPG5):c.1678-1G>A rs755928939 0.00001
NM_020964.3(EPG5):c.2776G>A (p.Ala926Thr) rs371695724 0.00001
NM_020964.3(EPG5):c.3220T>C (p.Tyr1074His) rs369286199 0.00001
NM_020964.3(EPG5):c.3767A>G (p.Glu1256Gly) rs766928627 0.00001
NM_020964.3(EPG5):c.3854C>T (p.Ser1285Phe) rs779751217 0.00001
NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val) rs775284965 0.00001
NM_020964.3(EPG5):c.4163C>T (p.Pro1388Leu) rs543543733 0.00001
NM_020964.3(EPG5):c.7174G>A (p.Glu2392Lys) rs1399290496 0.00001
NM_020964.3(EPG5):c.7258T>C (p.Trp2420Arg) rs777351158 0.00001
NM_020964.3(EPG5):c.7486C>G (p.Gln2496Glu) rs370315826 0.00001
NM_020964.3(EPG5):c.7576T>G (p.Ser2526Ala) rs772963749 0.00001
NM_020964.3(EPG5):c.1004T>C (p.Val335Ala)
NM_020964.3(EPG5):c.1009-4G>T
NM_020964.3(EPG5):c.1235T>C (p.Ile412Thr)
NM_020964.3(EPG5):c.135G>T (p.Glu45Asp) rs370173694
NM_020964.3(EPG5):c.1454G>A (p.Arg485Gln)
NM_020964.3(EPG5):c.1486C>T (p.Pro496Ser)
NM_020964.3(EPG5):c.149C>T (p.Ser50Phe)
NM_020964.3(EPG5):c.1658T>C (p.Val553Ala)
NM_020964.3(EPG5):c.1730C>T (p.Thr577Ile)
NM_020964.3(EPG5):c.1854C>A (p.Asn618Lys)
NM_020964.3(EPG5):c.1968C>A (p.Asp656Glu)
NM_020964.3(EPG5):c.235G>A (p.Glu79Lys)
NM_020964.3(EPG5):c.2581C>T (p.Pro861Ser)
NM_020964.3(EPG5):c.26G>A (p.Arg9His)
NM_020964.3(EPG5):c.2713A>G (p.Lys905Glu)
NM_020964.3(EPG5):c.2971G>C (p.Val991Leu)
NM_020964.3(EPG5):c.310A>G (p.Lys104Glu)
NM_020964.3(EPG5):c.3166A>G (p.Thr1056Ala)
NM_020964.3(EPG5):c.3172G>C (p.Val1058Leu)
NM_020964.3(EPG5):c.349G>A (p.Ala117Thr)
NM_020964.3(EPG5):c.35AGGCCA[3] (p.12KA[3]) rs769267797
NM_020964.3(EPG5):c.3622T>C (p.Ser1208Pro)
NM_020964.3(EPG5):c.3781A>G (p.Ile1261Val)
NM_020964.3(EPG5):c.3949_3952del (p.Leu1317fs)
NM_020964.3(EPG5):c.3983+4T>C
NM_020964.3(EPG5):c.4072G>C (p.Glu1358Gln)
NM_020964.3(EPG5):c.4112G>A (p.Arg1371His) rs748634612
NM_020964.3(EPG5):c.4169A>G (p.Tyr1390Cys) rs551488784
NM_020964.3(EPG5):c.416C>T (p.Thr139Ile)
NM_020964.3(EPG5):c.4259A>G (p.Asp1420Gly)
NM_020964.3(EPG5):c.4271C>G (p.Pro1424Arg)
NM_020964.3(EPG5):c.4289A>G (p.Tyr1430Cys)
NM_020964.3(EPG5):c.4339A>G (p.Met1447Val)
NM_020964.3(EPG5):c.4405G>A (p.Ala1469Thr)
NM_020964.3(EPG5):c.4430C>T (p.Pro1477Leu)
NM_020964.3(EPG5):c.459A>C (p.Glu153Asp)
NM_020964.3(EPG5):c.4708C>T (p.Pro1570Ser)
NM_020964.3(EPG5):c.4853A>G (p.His1618Arg)
NM_020964.3(EPG5):c.5054A>T (p.Gln1685Leu)
NM_020964.3(EPG5):c.5062C>G (p.Pro1688Ala)
NM_020964.3(EPG5):c.5075A>T (p.Gln1692Leu)
NM_020964.3(EPG5):c.5170A>G (p.Ser1724Gly)
NM_020964.3(EPG5):c.5314A>T (p.Lys1772Ter)
NM_020964.3(EPG5):c.5356A>T (p.Thr1786Ser) rs1555667238
NM_020964.3(EPG5):c.5407C>G (p.Pro1803Ala)
NM_020964.3(EPG5):c.5584G>T (p.Ala1862Ser) rs34977955
NM_020964.3(EPG5):c.5602G>C (p.Gly1868Arg) rs762207905
NM_020964.3(EPG5):c.5602G>T (p.Gly1868Trp) rs762207905
NM_020964.3(EPG5):c.5636G>A (p.Ser1879Asn) rs1213600316
NM_020964.3(EPG5):c.5699T>G (p.Phe1900Cys)
NM_020964.3(EPG5):c.5714G>A (p.Arg1905Gln)
NM_020964.3(EPG5):c.5854G>A (p.Ala1952Thr) rs111806310
NM_020964.3(EPG5):c.5881C>G (p.Leu1961Val)
NM_020964.3(EPG5):c.5951A>G (p.Gln1984Arg)
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_020964.3(EPG5):c.6190C>T (p.His2064Tyr) rs1269756096
NM_020964.3(EPG5):c.6253T>G (p.Phe2085Val) rs769470632
NM_020964.3(EPG5):c.6427A>G (p.Ser2143Gly)
NM_020964.3(EPG5):c.6487A>T (p.Ser2163Cys)
NM_020964.3(EPG5):c.6491T>C (p.Val2164Ala)
NM_020964.3(EPG5):c.6584C>T (p.Ala2195Val)
NM_020964.3(EPG5):c.6691G>A (p.Gly2231Arg)
NM_020964.3(EPG5):c.6742G>A (p.Asp2248Asn)
NM_020964.3(EPG5):c.67AAG[2] (p.Lys25del)
NM_020964.3(EPG5):c.7179G>C (p.Met2393Ile)
NM_020964.3(EPG5):c.7183G>A (p.Val2395Met)
NM_020964.3(EPG5):c.7231G>A (p.Val2411Met) rs764568339
NM_020964.3(EPG5):c.7273C>G (p.Leu2425Val)
NM_020964.3(EPG5):c.7583C>G (p.Ala2528Gly)
NM_020964.3(EPG5):c.7735C>T (p.Arg2579Ter)
NM_020964.3(EPG5):c.893C>T (p.Ser298Leu)
NM_020964.3(EPG5):c.964A>G (p.Lys322Glu) rs1294882967
NM_020964.3(EPG5):c.971G>A (p.Arg324Gln) rs769257858

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