ClinVar Miner

List of variants in gene POLG reported by Ambry Genetics

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Total variants: 69
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HGVS dbSNP
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.126_128GCA[10] (p.Gln55del) rs41550117
NM_002693.2(POLG):c.126_128GCA[12] (p.Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.2(POLG):c.126_128GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.2(POLG):c.126_128GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.134A>G (p.Gln45Arg) rs201016638
NM_002693.2(POLG):c.1389G>A (p.Leu463=) rs150828914
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.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.1736G>A (p.Arg579Gln)
NM_002693.2(POLG):c.1743C>T (p.Asp581=) rs140743000
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.1991G>A (p.Gly664Glu) rs773073959
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2051A>G (p.Asn684Ser) rs202244328
NM_002693.2(POLG):c.2069C>T (p.Thr690Met)
NM_002693.2(POLG):c.2109C>A (p.Ala703=) rs2307429
NM_002693.2(POLG):c.2197C>T (p.His733Tyr)
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.2220C>T (p.Asn740=) rs141538857
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2369G>A (p.Arg790His) rs191490663
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
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.260T>C (p.Ile87Thr)
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_002693.2(POLG):c.3014_3057del (p.Val1005fs) rs886041276
NM_002693.2(POLG):c.3095C>G (p.Thr1032Ser)
NM_002693.2(POLG):c.3104+3A>T
NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) rs150233690
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186
NM_002693.2(POLG):c.3274-4C>T rs760343963
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) rs1354582663
NM_002693.2(POLG):c.337T>G (p.Trp113Gly)
NM_002693.2(POLG):c.3450C>T (p.Ala1150=) rs774880085
NM_002693.2(POLG):c.3561G>C (p.Arg1187=) rs62640037
NM_002693.2(POLG):c.3597C>A (p.Thr1199=) rs2307443
NM_002693.2(POLG):c.377G>A (p.Arg126His)
NM_002693.2(POLG):c.409C>T (p.Gln137Ter) rs1057517891
NM_002693.2(POLG):c.431A>G (p.Gln144Arg)
NM_002693.2(POLG):c.460G>A (p.Ala154Thr) rs753858440
NM_002693.2(POLG):c.472T>C (p.Leu158=) rs1567194008
NM_002693.2(POLG):c.551C>T (p.Ala184Val) rs1567193930
NM_002693.2(POLG):c.578G>A (p.Arg193Gln) rs3176162
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.798G>T (p.Val266=) rs143631183
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.948G>A (p.Lys316=) rs61756401
NM_002693.2(POLG):c.975C>A (p.Pro325=) rs551973680

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