ClinVar Miner

List of variants in gene combination POLG, POLGARF reported as uncertain significance for mitochondrial DNA depletion syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 273
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_002693.3(POLG):c.398A>G (p.Asp133Gly) rs540905618 0.00008
NM_002693.3(POLG):c.719C>T (p.Ser240Leu) rs369175235 0.00008
NM_002693.3(POLG):c.154C>A (p.Gln52Lys) rs376683989 0.00006
NM_002693.3(POLG):c.346C>T (p.Pro116Ser) rs771676521 0.00006
NM_002693.3(POLG):c.125G>A (p.Arg42Gln) rs74382477 0.00005
NM_002693.3(POLG):c.331G>C (p.Gly111Arg) rs760170099 0.00004
NM_002693.3(POLG):c.487C>T (p.Pro163Ser) rs758454871 0.00004
NM_002693.3(POLG):c.388C>T (p.Leu130Phe) rs201261842 0.00003
NM_002693.3(POLG):c.629C>T (p.Thr210Ile) rs1450989575 0.00003
NM_002693.3(POLG):c.178C>A (p.Gln60Lys) rs780379693 0.00002
NM_002693.3(POLG):c.17G>C (p.Trp6Ser) rs1057524249 0.00002
NM_002693.3(POLG):c.3493G>A (p.Ala1165Thr) rs778611629 0.00002
NM_002693.3(POLG):c.3G>C (p.Met1Ile) rs878877754 0.00002
NM_002693.3(POLG):c.452T>C (p.Leu151Pro) rs749018627 0.00002
NM_002693.3(POLG):c.544G>C (p.Gly182Arg) rs768242927 0.00002
NM_002693.3(POLG):c.547G>C (p.Glu183Gln) rs762582785 0.00002
NM_002693.3(POLG):c.56T>C (p.Val19Ala) rs770885465 0.00002
NM_002693.3(POLG):c.713A>G (p.Gln238Arg) rs56410699 0.00002
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.116A>G (p.Gln39Arg) rs749750052 0.00001
NM_002693.3(POLG):c.13C>T (p.Leu5Phe) rs761648850 0.00001
NM_002693.3(POLG):c.148C>A (p.Gln50Lys) rs752556685 0.00001
NM_002693.3(POLG):c.188C>T (p.Ser63Phe) rs960812250 0.00001
NM_002693.3(POLG):c.191C>G (p.Ser64Trp) rs1397887879 0.00001
NM_002693.3(POLG):c.199G>A (p.Gly67Arg) rs1415744247 0.00001
NM_002693.3(POLG):c.1A>G (p.Met1Val) rs201786897 0.00001
NM_002693.3(POLG):c.200G>C (p.Gly67Ala) rs1399456619 0.00001
NM_002693.3(POLG):c.2777G>A (p.Ser926Asn) rs752971760 0.00001
NM_002693.3(POLG):c.282G>A (p.Met94Ile) rs753739487 0.00001
NM_002693.3(POLG):c.337T>A (p.Trp113Arg) rs746450616 0.00001
NM_002693.3(POLG):c.352G>A (p.Val118Met) rs778608349 0.00001
NM_002693.3(POLG):c.355C>T (p.Pro119Ser) rs1420577605 0.00001
NM_002693.3(POLG):c.360G>T (p.Leu120Phe) rs886043905 0.00001
NM_002693.3(POLG):c.38C>G (p.Thr13Ser) rs1199924512 0.00001
NM_002693.3(POLG):c.395G>A (p.Gly132Glu) rs1060500774 0.00001
NM_002693.3(POLG):c.402C>G (p.Asn134Lys) rs759939229 0.00001
NM_002693.3(POLG):c.413A>C (p.His138Pro) rs766932926 0.00001
NM_002693.3(POLG):c.431A>G (p.Gln144Arg) rs1056580076 0.00001
NM_002693.3(POLG):c.475C>G (p.Gln159Glu) rs1487941216 0.00001
NM_002693.3(POLG):c.479C>T (p.Ala160Val) rs1304711656 0.00001
NM_002693.3(POLG):c.488C>T (p.Pro163Leu) rs752892262 0.00001
NM_002693.3(POLG):c.490C>G (p.Pro164Ala) rs779208296 0.00001
NM_002693.3(POLG):c.542A>C (p.Glu181Ala) rs761349383 0.00001
NM_002693.3(POLG):c.565A>G (p.Ile189Val) rs769547245 0.00001
NM_002693.3(POLG):c.577C>T (p.Arg193Trp) rs772048616 0.00001
NM_002693.3(POLG):c.581C>T (p.Ala194Val) rs779122022 0.00001
NM_002693.3(POLG):c.583C>A (p.Leu195Met) rs997971133 0.00001
NM_002693.3(POLG):c.584T>C (p.Leu195Pro) rs794727267 0.00001
NM_002693.3(POLG):c.598G>C (p.Glu200Gln) rs756447384 0.00001
NM_002693.3(POLG):c.602T>G (p.Val201Gly) rs750928338 0.00001
NM_002693.3(POLG):c.609G>C (p.Leu203Phe) rs796052900 0.00001
NM_002693.3(POLG):c.635C>T (p.Ala212Val) rs751130039 0.00001
NM_002693.3(POLG):c.64C>T (p.Pro22Ser) rs568058975 0.00001
NM_002693.3(POLG):c.653C>T (p.Ser218Leu) rs1060500775 0.00001
NM_002693.3(POLG):c.659+4A>G rs1260147650 0.00001
NM_002693.3(POLG):c.659G>C (p.Trp220Ser) rs1004988362 0.00001
NM_002693.3(POLG):c.67G>A (p.Gly23Arg) rs1422899388 0.00001
NM_002693.3(POLG):c.86C>G (p.Ser29Cys) rs796052895 0.00001
NM_002693.3(POLG):c.88G>A (p.Val30Ile) rs1321405180 0.00001
NM_002693.2(POLG):c.125_139dup rs780010436
NM_002693.3(POLG):c.-25_10dup (p.Leu4delinsProAlaTrpGlySerLeuHisGlnProTer)
NM_002693.3(POLG):c.104C>T (p.Pro35Leu) rs769214289
NM_002693.3(POLG):c.107G>C (p.Ser36Thr)
NM_002693.3(POLG):c.112G>A (p.Gly38Arg) rs866945104
NM_002693.3(POLG):c.112G>C (p.Gly38Arg) rs866945104
NM_002693.3(POLG):c.113G>A (p.Gly38Glu) rs1403540142
NM_002693.3(POLG):c.116_118del (p.Gln39del) rs763663907
NM_002693.3(POLG):c.1186T>C (p.Cys396Arg) rs1567191994
NM_002693.3(POLG):c.119G>T (p.Arg40Leu) rs200946722
NM_002693.3(POLG):c.119GGC[1] (p.Arg41_Arg42del)
NM_002693.3(POLG):c.119GGC[5] (p.Arg41_Arg42dup) rs761080016
NM_002693.3(POLG):c.119_130del (p.Arg40_Gln43del) rs1274859892
NM_002693.3(POLG):c.119_133del (p.Arg40_Gln44del)
NM_002693.3(POLG):c.119_142dup (p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln)
NM_002693.3(POLG):c.125_133del (p.Arg42_Gln44del)
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del) rs780010436
NM_002693.3(POLG):c.125_145del (p.Arg42_Gln48del)
NM_002693.3(POLG):c.125_145dup (p.Arg42_Gln48dup) rs758359050
NM_002693.3(POLG):c.126GCA[16] (p.Gln51_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[17] (p.Gln50_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[18] (p.Gln49_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[20] (p.Gln47_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[21] (p.Gln46_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[3] (p.Gln48_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[4] (p.Gln49_Gln55del) rs41550117
NM_002693.3(POLG):c.127_128insGGCAGC (p.Arg42_Gln43insArgGln) rs776122200
NM_002693.3(POLG):c.127_128insGGCGGCAGC (p.Arg42_Gln43insArgArgGln)
NM_002693.3(POLG):c.130_131insGGC (p.Gln43_Gln44insArg) rs1555454345
NM_002693.3(POLG):c.132G>T (p.Gln44His) rs1596362738
NM_002693.3(POLG):c.133_134insGGCAGCGGCGGCGGC (p.Gln44_Gln45insArgGlnArgArgArg) rs1567194472
NM_002693.3(POLG):c.134_137delinsG (p.Gln45_Gln46delinsArg) rs1567194455
NM_002693.3(POLG):c.135G>C (p.Gln45His)
NM_002693.3(POLG):c.136_137insGGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnGlnGlnGln) rs2055628450
NM_002693.3(POLG):c.136_137insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnArgArgArgGlnGlnGlnGlnGln) rs2055628450
NM_002693.3(POLG):c.136_137insGGCGGCGGCAGCAGC (p.Gln45_Gln46insArgArgArgGlnGln) rs2141816159
NM_002693.3(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.3(POLG):c.139C>G (p.Gln47Glu)
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_002693.3(POLG):c.140_141insACA (p.Gln55dup) rs1397675423
NM_002693.3(POLG):c.142C>G (p.Gln48Glu)
NM_002693.3(POLG):c.143A>G (p.Gln48Arg) rs2141816053
NM_002693.3(POLG):c.143_144insCCAGCA (p.Gln47_Gln48insHisGln) rs2055627759
NM_002693.3(POLG):c.143_166del (p.Gln48_Gln55del)
NM_002693.3(POLG):c.1452G>C (p.Trp484Cys) rs774879097
NM_002693.3(POLG):c.146_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGln)
NM_002693.3(POLG):c.149_166dup (p.Gln50_Gln55dup) rs773536141
NM_002693.3(POLG):c.151C>G (p.Gln51Glu)
NM_002693.3(POLG):c.152A>G (p.Gln51Arg) rs1478709276
NM_002693.3(POLG):c.152_153insACA (p.Gln55dup) rs1466061893
NM_002693.3(POLG):c.152_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGln)
NM_002693.3(POLG):c.155_156insTCA (p.Gln51_Gln52insHis) rs573261648
NM_002693.3(POLG):c.155_175dup (p.Gln58_Pro59insGlnGlnGlnGlnProGlnGln)
NM_002693.3(POLG):c.156G>C (p.Gln52His) rs587781117
NM_002693.3(POLG):c.158A>C (p.Gln53Pro) rs527965158
NM_002693.3(POLG):c.158_159insGCAACA (p.Gln54_Gln55dup) rs1555454333
NM_002693.3(POLG):c.159A>T (p.Gln53His) rs587781118
NM_002693.3(POLG):c.159delinsGCAACAGCAGCCT (p.Gln55_Pro56insGlnProGlnGln) rs1596362608
NM_002693.3(POLG):c.161AGC[1] (p.Gln55del)
NM_002693.3(POLG):c.161AGC[3] (p.Gln55_Pro56insGln)
NM_002693.3(POLG):c.161AGC[4] (p.Gln55_Pro56insGlnGln)
NM_002693.3(POLG):c.167C>G (p.Pro56Arg) rs1022612492
NM_002693.3(POLG):c.167C>T (p.Pro56Leu)
NM_002693.3(POLG):c.168_176dup (p.55QPQ[3]) rs771937417
NM_002693.3(POLG):c.176C>T (p.Pro59Leu) rs1057518590
NM_002693.3(POLG):c.179A>C (p.Gln60Pro)
NM_002693.3(POLG):c.187T>C (p.Ser63Pro) rs781006710
NM_002693.3(POLG):c.189_191del (p.Ser64del) rs2141815620
NM_002693.3(POLG):c.191C>T (p.Ser64Leu)
NM_002693.3(POLG):c.199G>C (p.Gly67Arg)
NM_002693.3(POLG):c.19A>T (p.Arg7Trp)
NM_002693.3(POLG):c.203A>T (p.Gln68Leu) rs1171419088
NM_002693.3(POLG):c.204G>C (p.Gln68His)
NM_002693.3(POLG):c.209G>A (p.Arg70Gln) rs1031558097
NM_002693.3(POLG):c.211C>T (p.His71Tyr)
NM_002693.3(POLG):c.212A>G (p.His71Arg)
NM_002693.3(POLG):c.215A>G (p.Asn72Ser) rs796052897
NM_002693.3(POLG):c.218C>T (p.Pro73Leu)
NM_002693.3(POLG):c.231G>C (p.Gln77His)
NM_002693.3(POLG):c.231G>T (p.Gln77His)
NM_002693.3(POLG):c.2384A>G (p.Asn795Ser) rs2055414996
NM_002693.3(POLG):c.241A>G (p.Arg81Gly) rs764544892
NM_002693.3(POLG):c.2426+10C>G rs1567187739
NM_002693.3(POLG):c.244G>A (p.Gly82Arg) rs139134661
NM_002693.3(POLG):c.244G>T (p.Gly82Trp) rs139134661
NM_002693.3(POLG):c.24G>C (p.Lys8Asn) rs886044323
NM_002693.3(POLG):c.253G>A (p.Glu85Lys)
NM_002693.3(POLG):c.253G>C (p.Glu85Gln)
NM_002693.3(POLG):c.256C>G (p.Gln86Glu) rs2141815363
NM_002693.3(POLG):c.257A>C (p.Gln86Pro)
NM_002693.3(POLG):c.25G>A (p.Val9Met)
NM_002693.3(POLG):c.260T>C (p.Ile87Thr) rs776347449
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.2654C>T (p.Thr885Ile) rs1224799376
NM_002693.3(POLG):c.274G>A (p.Gly92Arg)
NM_002693.3(POLG):c.274G>C (p.Gly92Arg) rs747837325
NM_002693.3(POLG):c.280A>T (p.Met94Leu) rs778753625
NM_002693.3(POLG):c.282G>T (p.Met94Ile) rs753739487
NM_002693.3(POLG):c.284C>T (p.Pro95Leu)
NM_002693.3(POLG):c.302G>T (p.Arg101Leu)
NM_002693.3(POLG):c.304C>A (p.Arg102Ser) rs1328607569
NM_002693.3(POLG):c.304C>T (p.Arg102Cys) rs1328607569
NM_002693.3(POLG):c.308G>C (p.Ser103Thr)
NM_002693.3(POLG):c.311T>C (p.Val104Ala)
NM_002693.3(POLG):c.313G>C (p.Glu105Gln) rs1049712904
NM_002693.3(POLG):c.322C>G (p.Gln108Glu) rs931281951
NM_002693.3(POLG):c.325A>G (p.Lys109Glu) rs368137494
NM_002693.3(POLG):c.327G>T (p.Lys109Asn) rs2055622519
NM_002693.3(POLG):c.3293A>T (p.Asn1098Ile) rs587780421
NM_002693.3(POLG):c.32G>C (p.Gly11Ala)
NM_002693.3(POLG):c.32G>T (p.Gly11Val) rs765472726
NM_002693.3(POLG):c.3306G>C (p.Gln1102His) rs1336274767
NM_002693.3(POLG):c.339G>T (p.Trp113Cys)
NM_002693.3(POLG):c.340G>A (p.Gly114Arg)
NM_002693.3(POLG):c.346C>A (p.Pro116Thr) rs771676521
NM_002693.3(POLG):c.347C>A (p.Pro116Gln) rs747828222
NM_002693.3(POLG):c.347C>G (p.Pro116Arg) rs747828222
NM_002693.3(POLG):c.3483-6T>C
NM_002693.3(POLG):c.352G>T (p.Val118Leu)
NM_002693.3(POLG):c.35C>T (p.Ala12Val)
NM_002693.3(POLG):c.360G>C (p.Leu120Phe)
NM_002693.3(POLG):c.3637C>T (p.Pro1213Ser) rs2055307106
NM_002693.3(POLG):c.364G>T (p.Asp122Tyr) rs2055621716
NM_002693.3(POLG):c.366C>G (p.Asp122Glu)
NM_002693.3(POLG):c.367G>C (p.Val123Leu) rs2055621640
NM_002693.3(POLG):c.371A>T (p.Glu124Val) rs1418568120
NM_002693.3(POLG):c.372G>T (p.Glu124Asp) rs1036577228
NM_002693.3(POLG):c.373C>G (p.Leu125Val)
NM_002693.3(POLG):c.376C>T (p.Arg126Cys)
NM_002693.3(POLG):c.37A>G (p.Thr13Ala) rs999643917
NM_002693.3(POLG):c.386C>T (p.Pro129Leu)
NM_002693.3(POLG):c.388C>A (p.Leu130Ile)
NM_002693.3(POLG):c.394G>A (p.Gly132Arg)
NM_002693.3(POLG):c.401A>G (p.Asn134Ser) rs765542094
NM_002693.3(POLG):c.401A>T (p.Asn134Ile)
NM_002693.3(POLG):c.410A>G (p.Gln137Arg)
NM_002693.3(POLG):c.414C>G (p.His138Gln)
NM_002693.3(POLG):c.416T>G (p.Phe139Cys) rs2141814897
NM_002693.3(POLG):c.418C>T (p.Arg140Cys) rs761248036
NM_002693.3(POLG):c.419G>T (p.Arg140Leu)
NM_002693.3(POLG):c.421C>T (p.Leu141Phe)
NM_002693.3(POLG):c.430C>G (p.Gln144Glu) rs2141814867
NM_002693.3(POLG):c.434A>G (p.Lys145Arg)
NM_002693.3(POLG):c.438G>C (p.Gln146His)
NM_002693.3(POLG):c.439A>G (p.Ser147Gly)
NM_002693.3(POLG):c.439A>T (p.Ser147Cys)
NM_002693.3(POLG):c.449A>G (p.Tyr150Cys) rs2055620034
NM_002693.3(POLG):c.449A>T (p.Tyr150Phe)
NM_002693.3(POLG):c.452T>G (p.Leu151Arg)
NM_002693.3(POLG):c.46C>T (p.Pro16Ser)
NM_002693.3(POLG):c.482A>G (p.Gln161Arg) rs2141814756
NM_002693.3(POLG):c.490C>A (p.Pro164Thr)
NM_002693.3(POLG):c.491C>T (p.Pro164Leu) rs1169437119
NM_002693.3(POLG):c.497C>T (p.Pro166Leu)
NM_002693.3(POLG):c.500C>T (p.Pro167Leu) rs1424057005
NM_002693.3(POLG):c.508G>T (p.Ala170Ser)
NM_002693.3(POLG):c.509C>T (p.Ala170Val)
NM_002693.3(POLG):c.510_515dup (p.169WA[3]) rs2141814680
NM_002693.3(POLG):c.514_525del (p.Ala172_Trp175del)
NM_002693.3(POLG):c.52C>T (p.Pro18Ser) rs3087373
NM_002693.3(POLG):c.530G>T (p.Arg177Leu)
NM_002693.3(POLG):c.536G>T (p.Gly179Val)
NM_002693.3(POLG):c.538C>T (p.Pro180Ser) rs1567193954
NM_002693.3(POLG):c.53C>A (p.Pro18Gln) rs1394515933
NM_002693.3(POLG):c.53C>T (p.Pro18Leu) rs1394515933
NM_002693.3(POLG):c.549G>C (p.Glu183Asp) rs1555454267
NM_002693.3(POLG):c.551C>T (p.Ala184Val) rs1567193930
NM_002693.3(POLG):c.553G>A (p.Val185Ile) rs953495957
NM_002693.3(POLG):c.559G>C (p.Val187Leu) rs1555454261
NM_002693.3(POLG):c.562G>A (p.Ala188Thr)
NM_002693.3(POLG):c.563C>G (p.Ala188Gly)
NM_002693.3(POLG):c.568C>G (p.Pro190Ala)
NM_002693.3(POLG):c.569C>T (p.Pro190Leu) rs1179914559
NM_002693.3(POLG):c.578G>C (p.Arg193Pro)
NM_002693.3(POLG):c.586G>A (p.Val196Met)
NM_002693.3(POLG):c.58C>T (p.Pro20Ser) rs1596362883
NM_002693.3(POLG):c.591C>A (p.Phe197Leu)
NM_002693.3(POLG):c.595G>C (p.Val199Leu)
NM_002693.3(POLG):c.595G>T (p.Val199Leu)
NM_002693.3(POLG):c.601G>T (p.Val201Phe) rs2141814471
NM_002693.3(POLG):c.611C>G (p.Ala204Gly) rs1015074661
NM_002693.3(POLG):c.614A>G (p.Glu205Gly) rs2055617012
NM_002693.3(POLG):c.617G>A (p.Gly206Glu) rs2055616949
NM_002693.3(POLG):c.61G>T (p.Ala21Ser)
NM_002693.3(POLG):c.620C>G (p.Thr207Ser)
NM_002693.3(POLG):c.625C>G (p.Pro209Ala)
NM_002693.3(POLG):c.62C>T (p.Ala21Val) rs796052893
NM_002693.3(POLG):c.638T>C (p.Val213Ala) rs1596362016
NM_002693.3(POLG):c.641C>T (p.Ala214Val) rs948866053
NM_002693.3(POLG):c.647C>A (p.Ser216Tyr)
NM_002693.3(POLG):c.647C>T (p.Ser216Phe) rs763592738
NM_002693.3(POLG):c.64C>A (p.Pro22Thr)
NM_002693.3(POLG):c.659+6T>C rs1429417228
NM_002693.3(POLG):c.673A>G (p.Ser225Gly)
NM_002693.3(POLG):c.680G>A (p.Arg227Gln)
NM_002693.3(POLG):c.691G>A (p.Glu231Lys)
NM_002693.3(POLG):c.695G>C (p.Arg232Pro) rs113994093
NM_002693.3(POLG):c.70C>A (p.Arg24Ser) rs1196273210
NM_002693.3(POLG):c.70C>T (p.Arg24Cys) rs1196273210
NM_002693.3(POLG):c.718T>C (p.Ser240Pro) rs2141806695
NM_002693.3(POLG):c.71G>T (p.Arg24Leu)
NM_002693.3(POLG):c.725C>A (p.Ala242Asp)
NM_002693.3(POLG):c.74G>T (p.Trp25Leu)
NM_002693.3(POLG):c.76G>A (p.Val26Ile)
NM_002693.3(POLG):c.85T>C (p.Ser29Pro)
NM_002693.3(POLG):c.89_100del (p.Val30_Ser33del)
NM_002693.3(POLG):c.94G>A (p.Ala32Thr)

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