ClinVar Miner

List of variants in gene POLG reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP
NM_002693.2(POLG):c.1001G>A (p.Arg334Lys) rs776437525
NM_002693.2(POLG):c.1094G>C (p.Gly365Ala)
NM_002693.2(POLG):c.1097G>C (p.Gly366Ala) rs757315161
NM_002693.2(POLG):c.1100C>T (p.Pro367Leu)
NM_002693.2(POLG):c.112G>C (p.Gly38Arg)
NM_002693.2(POLG):c.1157G>A (p.Arg386His) rs1394411503
NM_002693.2(POLG):c.1198G>A (p.Val400Met)
NM_002693.2(POLG):c.1223_1225AGC[2] (p.Gln410del) rs765446994
NM_002693.2(POLG):c.1235C>T (p.Pro412Leu) rs587780420
NM_002693.2(POLG):c.1244T>G (p.Leu415Trp)
NM_002693.2(POLG):c.1250+5G>T rs751221993
NM_002693.2(POLG):c.125G>A (p.Arg42Gln) rs74382477
NM_002693.2(POLG):c.125_139del (p.Arg42_Gln46del)
NM_002693.2(POLG):c.1262C>T (p.Pro421Leu) rs752240321
NM_002693.2(POLG):c.126_128GCA[15] (p.Gln52_Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[16] (p.Gln51_Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[6] (p.Gln51_Gln55del) rs41550117
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.2(POLG):c.1280T>C (p.Met427Thr)
NM_002693.2(POLG):c.131A>G (p.Gln44Arg) rs757120802
NM_002693.2(POLG):c.1349G>T (p.Gly450Val) rs757804090
NM_002693.2(POLG):c.134_137delinsG (p.Gln45_Gln46delinsArg) rs1567194455
NM_002693.2(POLG):c.1370G>A (p.Arg457Gln)
NM_002693.2(POLG):c.1385C>T (p.Ser462Leu) rs762878459
NM_002693.2(POLG):c.1389G>C (p.Leu463Phe) rs150828914
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1403A>G (p.Asn468Ser) rs368614463
NM_002693.2(POLG):c.143_166dup (p.Gln48_Gln55dup) rs1555454325
NM_002693.2(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.2(POLG):c.1498G>A (p.Ala500Thr) rs745506700
NM_002693.2(POLG):c.1552G>A (p.Ala518Thr)
NM_002693.2(POLG):c.158_166dup (p.Gln53_Gln55dup) rs769735492
NM_002693.2(POLG):c.159delinsGCAACAGCAGCCT (p.Pro56_Gln57insGlnProGlnGln)
NM_002693.2(POLG):c.1607A>G (p.Glu536Gly)
NM_002693.2(POLG):c.1613A>C (p.Glu538Ala) rs767216577
NM_002693.2(POLG):c.1637G>A (p.Arg546His) rs773418477
NM_002693.2(POLG):c.1639G>T (p.Ala547Ser) rs779353857
NM_002693.2(POLG):c.1652A>G (p.Lys551Arg)
NM_002693.2(POLG):c.1669G>C (p.Glu557Gln) rs1481695998
NM_002693.2(POLG):c.1672C>G (p.Leu558Val) rs1411219168
NM_002693.2(POLG):c.167C>G (p.Pro56Arg) rs1022612492
NM_002693.2(POLG):c.1712+4A>C rs1555453528
NM_002693.2(POLG):c.1723A>C (p.Lys575Gln) rs1379482879
NM_002693.2(POLG):c.1735C>T (p.Arg579Trp) rs556925652
NM_002693.2(POLG):c.1736G>A (p.Arg579Gln)
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.2(POLG):c.1790G>A (p.Arg597Gln)
NM_002693.2(POLG):c.1795A>C (p.Thr599Pro) rs1064796458
NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) rs754245040
NM_002693.2(POLG):c.1885G>C (p.Asp629His) rs1555453424
NM_002693.2(POLG):c.1887C>G (p.Asp629Glu) rs886051524
NM_002693.2(POLG):c.1949+3A>G rs1057523710
NM_002693.2(POLG):c.1958A>T (p.Glu653Val)
NM_002693.2(POLG):c.1991G>A (p.Gly664Glu) rs773073959
NM_002693.2(POLG):c.1A>G (p.Met1Val) rs201786897
NM_002693.2(POLG):c.2026G>A (p.Ala676Thr) rs752293938
NM_002693.2(POLG):c.2027C>T (p.Ala676Val) rs376306906
NM_002693.2(POLG):c.2051A>G (p.Asn684Ser) rs202244328
NM_002693.2(POLG):c.2054G>A (p.Ser685Asn) rs775662032
NM_002693.2(POLG):c.2069C>T (p.Thr690Met)
NM_002693.2(POLG):c.2074_2076GAA[1] (p.Glu693del)
NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) rs776848222
NM_002693.2(POLG):c.2111A>C (p.Lys704Thr)
NM_002693.2(POLG):c.2125C>G (p.Arg709Gly)
NM_002693.2(POLG):c.2134G>A (p.Val712Met) rs748834542
NM_002693.2(POLG):c.2152G>T (p.Ala718Ser) rs755783536
NM_002693.2(POLG):c.2157+6C>T
NM_002693.2(POLG):c.2164C>T (p.Arg722Cys) rs763824242
NM_002693.2(POLG):c.2167G>A (p.Gly723Ser)
NM_002693.2(POLG):c.2195A>G (p.Tyr732Cys) rs760305786
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2215T>C (p.Tyr739His) rs796052885
NM_002693.2(POLG):c.2221G>A (p.Asp741Asn) rs751736420
NM_002693.2(POLG):c.2240G>A (p.Cys747Tyr)
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.2(POLG):c.2354G>A (p.Gly785Asp)
NM_002693.2(POLG):c.2369G>A (p.Arg790His) rs191490663
NM_002693.2(POLG):c.2392A>C (p.Ile798Leu) rs796052873
NM_002693.2(POLG):c.2424C>G (p.Ile808Met) rs1567187747
NM_002693.2(POLG):c.2480+5G>C rs1229969606
NM_002693.2(POLG):c.2481-9C>A rs369422789
NM_002693.2(POLG):c.2510A>G (p.Tyr837Cys) rs778190998
NM_002693.2(POLG):c.2529A>G (p.Gln843=) rs369395629
NM_002693.2(POLG):c.2557C>T (p.Arg853Trp) rs121918053
NM_002693.2(POLG):c.2573C>T (p.Thr858Ile) rs759128787
NM_002693.2(POLG):c.2591A>T (p.Asn864Ile)
NM_002693.2(POLG):c.2596C>T (p.Arg866Trp) rs748777396
NM_002693.2(POLG):c.2600C>G (p.Pro867Arg) rs780880601
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) rs375935084
NM_002693.2(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.2(POLG):c.2654C>G (p.Thr885Ser)
NM_002693.2(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.2(POLG):c.2665G>A (p.Ala889Thr) rs763393580
NM_002693.2(POLG):c.2712C>G (p.Asp904Glu) rs770458126
NM_002693.2(POLG):c.2727C>T (p.Gly909=) rs752611524
NM_002693.2(POLG):c.2815G>A (p.Val939Met) rs748045254
NM_002693.2(POLG):c.282G>A (p.Met94Ile)
NM_002693.2(POLG):c.2830G>A (p.Glu944Lys) rs768653086
NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) rs11546842
NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_002693.2(POLG):c.2924A>G (p.Gln975Arg)
NM_002693.2(POLG):c.2939A>C (p.Glu980Ala) rs754202777
NM_002693.2(POLG):c.2963C>T (p.Ala988Val) rs1279049508
NM_002693.2(POLG):c.2977C>T (p.Arg993Cys) rs551811489
NM_002693.2(POLG):c.2982-3C>T rs538731397
NM_002693.2(POLG):c.2986C>T (p.Arg996Trp) rs202229893
NM_002693.2(POLG):c.2987G>A (p.Arg996Gln) rs770236576
NM_002693.2(POLG):c.29C>T (p.Ala10Val) rs774459114
NM_002693.2(POLG):c.3006G>C (p.Glu1002Asp)
NM_002693.2(POLG):c.3009G>C (p.Trp1003Cys) rs1064796455
NM_002693.2(POLG):c.3017G>A (p.Arg1006Lys) rs142732551
NM_002693.2(POLG):c.3037G>T (p.Asp1013Tyr) rs1307399071
NM_002693.2(POLG):c.3077G>A (p.Arg1026His) rs777038915
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.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg)
NM_002693.2(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) rs201192905
NM_002693.2(POLG):c.3176A>T (p.Asn1059Ile) rs201192905
NM_002693.2(POLG):c.3215C>G (p.Thr1072Ser) rs530757118
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.3273+6T>A rs886051522
NM_002693.2(POLG):c.3279G>A (p.Met1093Ile) rs1238487198
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.32G>T (p.Gly11Val) rs765472726
NM_002693.2(POLG):c.3316G>T (p.Val1106Phe) rs1567185212
NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) rs765949668
NM_002693.2(POLG):c.3346A>G (p.Met1116Val) rs201144044
NM_002693.2(POLG):c.3360T>G (p.Phe1120Leu)
NM_002693.2(POLG):c.33C>T (p.Gly11=) rs1482684558
NM_002693.2(POLG):c.3424C>T (p.Arg1142Trp) rs2307442
NM_002693.2(POLG):c.3427G>A (p.Glu1143Lys)
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.3442C>T (p.Arg1148Cys) rs149099318
NM_002693.2(POLG):c.3445G>A (p.Ala1149Thr)
NM_002693.2(POLG):c.3461A>T (p.Gln1154Leu) rs1567185010
NM_002693.2(POLG):c.3463A>G (p.Ile1155Val) rs749640920
NM_002693.2(POLG):c.3482+6C>G rs55779802
NM_002693.2(POLG):c.3482+6C>T rs55779802
NM_002693.2(POLG):c.3524A>C (p.Gln1175Pro)
NM_002693.2(POLG):c.3527C>T (p.Ser1176Leu) rs776031396
NM_002693.2(POLG):c.3542G>A (p.Ser1181Asn) rs149921636
NM_002693.2(POLG):c.3560G>A (p.Arg1187Gln)
NM_002693.2(POLG):c.360G>T (p.Leu120Phe) rs886043905
NM_002693.2(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.2(POLG):c.3631G>A (p.Gly1211Arg)
NM_002693.2(POLG):c.388C>T (p.Leu130Phe)
NM_002693.2(POLG):c.391T>C (p.Tyr131His) rs562847013
NM_002693.2(POLG):c.395G>A (p.Gly132Glu) rs1060500774
NM_002693.2(POLG):c.398A>G (p.Asp133Gly) rs540905618
NM_002693.2(POLG):c.418C>T (p.Arg140Cys) rs761248036
NM_002693.2(POLG):c.460G>A (p.Ala154Thr) rs753858440
NM_002693.2(POLG):c.487C>T (p.Pro163Ser)
NM_002693.2(POLG):c.488C>T (p.Pro163Leu) rs752892262
NM_002693.2(POLG):c.602T>G (p.Val201Gly) rs750928338
NM_002693.2(POLG):c.641C>T (p.Ala214Val) rs948866053
NM_002693.2(POLG):c.653C>T (p.Ser218Leu) rs1060500775
NM_002693.2(POLG):c.659G>C (p.Trp220Ser) rs1004988362
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197
NM_002693.2(POLG):c.744G>C (p.Glu248Asp) rs753407311
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.773A>G (p.Gln258Arg)
NM_002693.2(POLG):c.814T>A (p.Ser272Thr)
NM_002693.2(POLG):c.833T>C (p.Ile278Thr) rs779502496
NM_002693.2(POLG):c.855+4A>G
NM_002693.2(POLG):c.862C>T (p.Arg288Cys) rs564582352
NM_002693.2(POLG):c.869G>A (p.Arg290His)
NM_002693.2(POLG):c.883A>G (p.Met295Val)
NM_002693.2(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.2(POLG):c.989A>G (p.Gln330Arg)

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