ClinVar Miner

List of variants in gene POLG reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 60
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HGVS dbSNP
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
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.2542G>A (p.Gly848Ser) rs113994098
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.1275C>T (p.Ala425=) rs147404477
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1558G>A (p.Ala520Thr) rs764756949
NM_002693.2(POLG):c.1640C>A (p.Ala547Asp) rs1567190832
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.1883G>A (p.Arg628Gln) rs201871736
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.2487C>T (p.Pro829=) rs147563527
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2554C>T rs144500145
NM_002693.2(POLG):c.2563G>T (p.Val855Leu) rs771254207
NM_002693.2(POLG):c.2605C>T (p.Arg869Ter) rs751376824
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2651A>G (p.Tyr884Cys) rs1057519140
NM_002693.2(POLG):c.2665G>A (p.Ala889Thr) rs763393580
NM_002693.2(POLG):c.2735-7C>G rs200372494
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.3034G>T (p.Val1012Leu) rs1596350782
NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) rs150233690
NM_002693.2(POLG):c.3216C>G (p.Thr1072=) rs146936870
NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) rs140079523
NM_002693.2(POLG):c.3294T>C (p.Asn1098=) rs374224714
NM_002693.2(POLG):c.331G>C (p.Gly111Arg) rs760170099
NM_002693.2(POLG):c.3346A>G (p.Met1116Val) rs201144044
NM_002693.2(POLG):c.3415T>C (p.Tyr1139His) rs1223325480
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) rs753864625
NM_002693.2(POLG):c.3521C>G (p.Pro1174Arg) rs1288906554
NM_002693.2(POLG):c.3542G>A (p.Ser1181Asn) rs149921636
NM_002693.2(POLG):c.3557A>T (p.Asp1186Val) rs1057519139
NM_002693.2(POLG):c.3626_3628dup (p.Tyr1210Ter) rs1596348339
NM_002693.2(POLG):c.391T>C (p.Tyr131His) rs562847013
NM_002693.2(POLG):c.425T>C (p.Leu142Pro) rs1064797202
NM_002693.2(POLG):c.428C>T (p.Ala143Val) rs796052899
NM_002693.2(POLG):c.539C>T (p.Pro180Leu) rs1243945619
NM_002693.2(POLG):c.653C>A (p.Ser218Ter) rs1060500775
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.856-17CTC[4] rs200056162
NM_002693.2(POLG):c.862C>T (p.Arg288Cys) rs564582352
NM_002693.2(POLG):c.88G>A (p.Val30Ile) rs1321405180
NM_002693.2(POLG):c.915C>G (p.Ser305Arg) rs769410130
NM_002693.2(POLG):c.925C>T (p.Arg309Cys) rs886041592
NM_002693.2(POLG):c.926G>A (p.Arg309His) rs780953863
NM_002693.2(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002693.3(POLG):c.126_128GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.3(POLG):c.1689C>T (p.Pro563=)
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.3437G>T (p.Arg1146Leu)
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
NM_002693.3(POLG):c.899C>T (p.Ala300Val)

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