ClinVar Miner

List of variants in gene EPG5 reported as uncertain significance for not provided

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile) rs200530606 0.00067
NM_020964.3(EPG5):c.7165T>G (p.Leu2389Val) rs199602966 0.00053
NM_020964.3(EPG5):c.1435C>T (p.Leu479Phe) rs200364337 0.00051
NM_020964.3(EPG5):c.2718+3A>G rs374002995 0.00032
NM_020964.3(EPG5):c.6403G>A (p.Asp2135Asn) rs202038268 0.00030
NM_020964.3(EPG5):c.1539G>T (p.Met513Ile) rs369120436 0.00022
NM_020964.3(EPG5):c.2983G>A (p.Val995Ile) rs377499566 0.00022
NM_020964.3(EPG5):c.6871A>G (p.Ser2291Gly) rs372382701 0.00022
NM_020964.3(EPG5):c.2881G>A (p.Glu961Lys) rs200744548 0.00018
NM_020964.3(EPG5):c.6792G>T (p.Met2264Ile) rs547681142 0.00013
NM_020964.3(EPG5):c.6037G>A (p.Glu2013Lys) rs374158728 0.00010
NM_020964.3(EPG5):c.6512A>G (p.His2171Arg) rs369070714 0.00006
NM_020964.3(EPG5):c.3303A>C (p.Gln1101His) rs201545867 0.00005
NM_020964.3(EPG5):c.1531C>G (p.His511Asp) rs762634619 0.00004
NM_020964.3(EPG5):c.340G>A (p.Gly114Arg) rs375017695 0.00004
NM_020964.3(EPG5):c.4444G>A (p.Val1482Met) rs746749336 0.00004
NM_020964.3(EPG5):c.5057G>A (p.Arg1686His) rs375463159 0.00004
NM_020964.3(EPG5):c.6825G>A (p.Met2275Ile) rs768330083 0.00004
NM_020964.3(EPG5):c.3158A>G (p.His1053Arg) rs758172811 0.00002
NM_020964.3(EPG5):c.1418C>T (p.Pro473Leu) rs189145719 0.00001
NM_020964.3(EPG5):c.2239T>C (p.Cys747Arg) rs1443228798 0.00001
NM_020964.3(EPG5):c.3044C>T (p.Ala1015Val) rs1135402736 0.00001
NM_020964.3(EPG5):c.3167C>T (p.Thr1056Ile) rs144908324 0.00001
NM_020964.3(EPG5):c.3991A>G (p.Ile1331Val) rs775284965 0.00001
NM_020964.3(EPG5):c.4663G>A (p.Glu1555Lys) rs780030419 0.00001
NM_020964.3(EPG5):c.6253T>C (p.Phe2085Leu) rs769470632 0.00001
NM_020964.3(EPG5):c.7243G>A (p.Ala2415Thr) rs1274877697 0.00001
NM_020964.3(EPG5):c.1217T>C (p.Val406Ala) rs2143745556
NM_020964.3(EPG5):c.1664_1666del (p.Glu555del) rs1568179586
NM_020964.3(EPG5):c.1726G>T (p.Val576Phe)
NM_020964.3(EPG5):c.1961T>G (p.Val654Gly)
NM_020964.3(EPG5):c.2258-878C>T
NM_020964.3(EPG5):c.2413-3T>G
NM_020964.3(EPG5):c.2690A>G (p.Glu897Gly) rs2145782456
NM_020964.3(EPG5):c.3130C>A (p.Leu1044Ile)
NM_020964.3(EPG5):c.315A>T (p.Glu105Asp)
NM_020964.3(EPG5):c.31_33delinsACG (p.Ala11Thr) rs1555683798
NM_020964.3(EPG5):c.3239+5G>A rs2145724330
NM_020964.3(EPG5):c.3556C>G (p.Gln1186Glu)
NM_020964.3(EPG5):c.3607C>T (p.Arg1203Trp) rs764221778
NM_020964.3(EPG5):c.3917C>T (p.Pro1306Leu)
NM_020964.3(EPG5):c.3919C>T (p.Leu1307Phe) rs765327583
NM_020964.3(EPG5):c.3994G>A (p.Asp1332Asn)
NM_020964.3(EPG5):c.4072G>A (p.Glu1358Lys) rs775481546
NM_020964.3(EPG5):c.4195G>T (p.Glu1399Ter) rs1568145102
NM_020964.3(EPG5):c.4243A>T (p.Asn1415Tyr) rs767091703
NM_020964.3(EPG5):c.4501C>T (p.Arg1501Trp) rs370776793
NM_020964.3(EPG5):c.4775A>G (p.Lys1592Arg) rs2145575638
NM_020964.3(EPG5):c.4853A>G (p.His1618Arg)
NM_020964.3(EPG5):c.5584G>T (p.Ala1862Ser) rs34977955
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp) rs759013844
NM_020964.3(EPG5):c.6011T>C (p.Phe2004Ser) rs2145364498
NM_020964.3(EPG5):c.6088C>T (p.His2030Tyr)
NM_020964.3(EPG5):c.6187C>G (p.Leu2063Val)
NM_020964.3(EPG5):c.6621+1G>A rs2048757326
NM_020964.3(EPG5):c.7304dup (p.Asn2435fs) rs1568094308
NM_020964.3(EPG5):c.7427C>T (p.Ser2476Leu)
NM_020964.3(EPG5):c.748C>G (p.Leu250Val) rs1472761578
NM_020964.3(EPG5):c.7736G>A (p.Arg2579Gln) rs763628666

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