ClinVar Miner

List of variants in gene POLG reported as pathogenic for not provided

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Total variants: 53
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HGVS dbSNP
NM_001126131.2(POLG):c.1268_1269CT[1] (p.Leu424fs) rs796052908
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.2395del (p.Ser799fs) rs796052919
NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.3218C>T (p.Pro1073Leu) rs267606959
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.1024-1G>C rs1567192203
NM_002693.2(POLG):c.1073del (p.Glu358fs) rs763418954
NM_002693.2(POLG):c.1433+1G>A rs771623994
NM_002693.2(POLG):c.160C>T (p.Gln54Ter) rs774768199
NM_002693.2(POLG):c.1716G>A (p.Trp572Ter) rs767709505
NM_002693.2(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.2(POLG):c.1808T>C (p.Met603Thr) rs367610201
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.1943C>G (p.Pro648Arg) rs796052906
NM_002693.2(POLG):c.202C>T (p.Gln68Ter) rs202039305
NM_002693.2(POLG):c.2125C>T (p.Arg709Ter) rs867038717
NM_002693.2(POLG):c.2420G>A (p.Arg807His) rs796052887
NM_002693.2(POLG):c.2554C>T rs144500145
NM_002693.2(POLG):c.2558G>A (p.Arg853Gln) rs796052888
NM_002693.2(POLG):c.2636A>G (p.Gln879Arg) rs368587966
NM_002693.2(POLG):c.2665G>A (p.Ala889Thr) rs763393580
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
NM_002693.2(POLG):c.2800_2801del (p.Lys934fs) rs796052907
NM_002693.2(POLG):c.2828G>A (p.Arg943His) rs1567186613
NM_002693.2(POLG):c.2840A>G (p.Lys947Arg) rs796052891
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.2(POLG):c.2870C>T (p.Ala957Val) rs753160398
NM_002693.2(POLG):c.2897T>G (p.Leu966Arg) rs142347031
NM_002693.2(POLG):c.2982-1G>C rs1064793493
NM_002693.2(POLG):c.3014_3057del (p.Val1005fs) rs886041276
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.3287G>T (p.Arg1096Leu) rs368435864
NM_002693.2(POLG):c.3313G>C (p.Ala1105Pro) rs753410045
NM_002693.2(POLG):c.3358_3361dup (p.Glu1121delinsValTer) rs1064793800
NM_002693.2(POLG):c.3550G>A (p.Asp1184Asn) rs1131691575
NM_002693.2(POLG):c.3609_3612dup (p.Gly1205fs) rs886043241
NM_002693.2(POLG):c.3643+2T>C rs1335880349
NM_002693.2(POLG):c.679C>T (p.Arg227Trp) rs121918056
NM_002693.2(POLG):c.694C>T (p.Arg232Cys) rs770115219
NM_002693.2(POLG):c.695G>A (p.Arg232His) rs113994093
NM_002693.2(POLG):c.823C>T (p.Arg275Ter) rs1057517803
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002693.2(POLG):c.915C>G (p.Ser305Arg) rs769410130
NM_002693.2(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.3156_3157CA[1] (p.Thr1053fs) rs1332921412
NM_002693.3(POLG):c.3286C>T rs201732356

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