ClinVar Miner

List of variants in gene POLG reported by Athena Diagnostics Inc

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Total variants: 68
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HGVS dbSNP
NM_002693.2(POLG):c.101A>T (p.Asp34Val) rs779409525
NM_002693.2(POLG):c.1126C>T (p.Leu376=) rs116165908
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.1250+5G>T rs751221993
NM_002693.2(POLG):c.134A>G (p.Gln45Arg) rs201016638
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
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.150G>A (p.Gln50=) rs766501874
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.158_159delinsCT (p.Gln53Pro) rs1064795981
NM_002693.2(POLG):c.1596C>T (p.Pro532=) rs199856571
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
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.1905G>T (p.Pro635=) rs550592814
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2111A>C (p.Lys704Thr)
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2218A>G (p.Asn740Asp) rs78347903
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002693.2(POLG):c.2372_2373delinsTC (p.Ala791Val) rs1555452985
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)
NM_002693.2(POLG):c.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2644C>A (p.Pro882Thr) rs1567186802
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2665G>A (p.Ala889Thr) rs763393580
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.2939A>C (p.Glu980Ala) rs754202777
NM_002693.2(POLG):c.2994G>C (p.Ser998=) rs567030498
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.3105-16_3105-15delGT rs146915033
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.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.3323A>G (p.Tyr1108Cys) rs765949668
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.3444C>T (p.Arg1148=) rs374937961
NM_002693.2(POLG):c.3445G>A (p.Ala1149Thr)
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.3559C>T (p.Arg1187Trp) rs369544574
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.3597C>A (p.Thr1199=) rs2307443
NM_002693.2(POLG):c.388C>T (p.Leu130Phe)
NM_002693.2(POLG):c.38C>G (p.Thr13Ser) rs1199924512
NM_002693.2(POLG):c.453G>A (p.Leu151=)
NM_002693.2(POLG):c.487C>T (p.Pro163Ser)
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.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.852C>T (p.Ile284=) rs41540414
NM_002693.2(POLG):c.856-5_856-3delCTC rs200056162
NM_002693.2(POLG):c.86C>G (p.Ser29Cys) rs796052895
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437

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