ClinVar Miner

List of variants in gene POLG reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 60
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HGVS dbSNP
NM_001126131.2(POLG):c.126_128GCA[15] (p.Gln52_Gln55dup) rs41550117
NM_001126131.2(POLG):c.158_159delinsCT (p.Gln53Pro) rs1064795981
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2372_2373delinsTC (p.Ala791Val) rs1555452985
NM_002693.2(POLG):c.101A>T (p.Asp34Val) rs779409525
NM_002693.2(POLG):c.1250+5G>T rs751221993
NM_002693.2(POLG):c.1356T>C (p.Tyr452=) rs3176179
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1493A>C (p.Lys498Thr) rs769637557
NM_002693.2(POLG):c.154C>A (p.Gln52Lys) rs376683989
NM_002693.2(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.2(POLG):c.1591G>A (p.Gly531Ser) rs796052904
NM_002693.2(POLG):c.1682A>G (p.Lys561Arg) rs1350960257
NM_002693.2(POLG):c.1684C>T (p.Arg562Trp) rs756952607
NM_002693.2(POLG):c.1784A>G (p.Gln595Arg) rs1567190319
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1842C>T (p.Tyr614=) rs62640033
NM_002693.2(POLG):c.2111A>C (p.Lys704Thr) rs1049107490
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2218A>G (p.Asn740Asp) rs78347903
NM_002693.2(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002693.2(POLG):c.2318A>G (p.Lys773Arg) rs1331031308
NM_002693.2(POLG):c.2468G>A (p.Arg823His) rs751172552
NM_002693.2(POLG):c.2509T>C (p.Tyr837His) rs544828395
NM_002693.2(POLG):c.2539G>A (p.Ala847Thr) rs750203541
NM_002693.2(POLG):c.2593G>T (p.Ala865Ser) rs1596352780
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) rs375935084
NM_002693.2(POLG):c.2644C>A (p.Pro882Thr) rs1567186802
NM_002693.2(POLG):c.2939A>C (p.Glu980Ala) rs754202777
NM_002693.2(POLG):c.3046G>A (p.Glu1016Lys) rs763290547
NM_002693.2(POLG):c.3073C>A (p.Leu1025Met) rs1421324049
NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) rs551708243
NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) rs150233690
NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) rs201192905
NM_002693.2(POLG):c.3257C>T (p.Ser1086Leu) rs373316463
NM_002693.2(POLG):c.3266A>G (p.Gln1089Arg) rs369716454
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.3323A>G (p.Tyr1108Cys) rs765949668
NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.3445G>A (p.Ala1149Thr) rs879135314
NM_002693.2(POLG):c.3498C>T (p.Tyr1166=) rs1427798436
NM_002693.2(POLG):c.3511A>C (p.Asn1171His) rs1567184138
NM_002693.2(POLG):c.3519G>A (p.Leu1173=) rs953889846
NM_002693.2(POLG):c.3564C>T (p.Cys1188=) rs146584956
NM_002693.2(POLG):c.3582C>T (p.Thr1194=) rs1555452247
NM_002693.2(POLG):c.388C>T (p.Leu130Phe) rs201261842
NM_002693.2(POLG):c.38C>G (p.Thr13Ser) rs1199924512
NM_002693.2(POLG):c.408C>G (p.Asp136Glu) rs115109291
NM_002693.2(POLG):c.453G>A (p.Leu151=) rs779981823
NM_002693.2(POLG):c.460G>A (p.Ala154Thr) rs753858440
NM_002693.2(POLG):c.487C>T (p.Pro163Ser) rs758454871
NM_002693.2(POLG):c.559G>C (p.Val187Leu) rs1555454261
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197
NM_002693.2(POLG):c.719C>T (p.Ser240Leu) rs369175235
NM_002693.2(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002693.2(POLG):c.869G>A (p.Arg290His) rs146603953
NM_002693.2(POLG):c.86C>G (p.Ser29Cys) rs796052895
NM_002693.2(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437

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