ClinVar Miner

List of variants reported as likely benign for Progressive sclerosing poliodystrophy by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3643+180G>A rs3176238 0.48246
NM_002693.3(POLG):c.2266-76T>C rs3176203 0.05603
NM_002693.3(POLG):c.1251-43C>T rs2307444 0.02369
NM_002693.3(POLG):c.3643+25A>G rs74842339 0.00779
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_002693.3(POLG):c.134A>G (p.Gln45Arg) rs201016638 0.00316
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_002693.3(POLG):c.1434-45C>T rs190262367 0.00163
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_002693.3(POLG):c.1434-27C>T rs139086616 0.00125
NM_002693.3(POLG):c.1949+20G>C rs371964664 0.00117
NM_002693.3(POLG):c.3104+24G>C rs201483942 0.00100
NM_002693.3(POLG):c.1251-23del rs541579481 0.00077
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_002693.3(POLG):c.1386G>A (p.Ser462=) rs62640034 0.00061
NM_002693.3(POLG):c.3104+32G>A rs200269242 0.00058
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_002693.3(POLG):c.2481-26C>T rs112776049 0.00055
NM_002693.3(POLG):c.3105-22C>T rs199809987 0.00049
NM_002693.3(POLG):c.660-29T>C rs374159057 0.00049
NM_002693.3(POLG):c.1712+10G>A rs55962804 0.00040
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_002693.3(POLG):c.2071-14T>G rs150088708 0.00032
NM_002693.3(POLG):c.3652C>T (p.Leu1218=) rs146301349 0.00032
NM_002693.3(POLG):c.391T>C (p.Tyr131His) rs562847013 0.00027
NM_002693.3(POLG):c.2149C>T (p.Leu717=) rs779515404 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_002693.3(POLG):c.3482+7G>A rs200309191 0.00024
NM_002693.3(POLG):c.408C>G (p.Asp136Glu) rs115109291 0.00023
NM_002693.3(POLG):c.2599-40G>T rs55792683 0.00021
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) rs200257554 0.00017
NM_002693.3(POLG):c.186A>G (p.Leu62=) rs745310138 0.00016
NM_002693.3(POLG):c.3104+27G>A rs373628823 0.00016
NM_002693.3(POLG):c.3104+50C>T rs370764907 0.00016
NM_002693.3(POLG):c.32G>A (p.Gly11Asp) rs765472726 0.00016
NM_002693.3(POLG):c.2157+11C>T rs56411159 0.00014
NM_002693.3(POLG):c.1171-24C>T rs369293614 0.00013
NM_002693.3(POLG):c.3644-16T>C rs536522307 0.00012
NM_002693.3(POLG):c.1024-44C>T rs370557654 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002693.3(POLG):c.3294T>C (p.Asn1098=) rs374224714 0.00011
NM_002693.3(POLG):c.1250+37G>T rs372614123 0.00009
NM_002693.3(POLG):c.2220C>T (p.Asn740=) rs141538857 0.00009
NM_002693.3(POLG):c.2599-24T>C rs368659678 0.00009
NM_002693.3(POLG):c.2157+15G>A rs766521182 0.00008
NM_002693.3(POLG):c.2481-44A>T rs370712401 0.00008
NM_002693.3(POLG):c.3075G>A (p.Leu1025=) rs146404260 0.00008
NM_002693.3(POLG):c.1586-21T>G rs908825194 0.00006
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00006
NM_002693.3(POLG):c.1761G>A (p.Pro587=) rs374805003 0.00006
NM_002693.3(POLG):c.1950-9T>C rs780378329 0.00006
NM_002693.3(POLG):c.2982-50G>A rs752500882 0.00006
NM_002693.3(POLG):c.3216C>G (p.Thr1072=) rs146936870 0.00006
NM_002693.3(POLG):c.3450C>T (p.Ala1150=) rs774880085 0.00006
NM_002693.3(POLG):c.1311C>T (p.Val437=) rs62640035 0.00005
NM_002693.3(POLG):c.1434-32C>G rs954111058 0.00005
NM_002693.3(POLG):c.2508C>T (p.Leu836=) rs183811122 0.00005
NM_002693.3(POLG):c.753T>A (p.Thr251=) rs148099686 0.00005
NM_002693.3(POLG):c.1638C>T (p.Arg546=) rs772461291 0.00004
NM_002693.3(POLG):c.1713-5C>T rs148494026 0.00004
NM_002693.3(POLG):c.2266-48del rs766283304 0.00004
NM_002693.3(POLG):c.2880C>T (p.Pro960=) rs752500492 0.00004
NM_002693.3(POLG):c.3222G>T (p.Val1074=) rs746773616 0.00004
NM_002693.3(POLG):c.3273+28A>C rs371425871 0.00004
NM_002693.3(POLG):c.3451C>T (p.Leu1151=) rs769193603 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002693.3(POLG):c.1949+44C>A rs762378430 0.00003
NM_002693.3(POLG):c.2027C>T (p.Ala676Val) rs376306906 0.00003
NM_002693.3(POLG):c.2598+28T>A rs1020120703 0.00003
NM_002693.3(POLG):c.2814T>C (p.Thr938=) rs771822843 0.00003
NM_002693.3(POLG):c.3519G>A (p.Leu1173=) rs953889846 0.00003
NM_002693.3(POLG):c.60A>C (p.Pro20=) rs944054671 0.00003
NM_002693.3(POLG):c.1585+18G>A rs1371422250 0.00002
NM_002693.3(POLG):c.2019C>T (p.Ala673=) rs557179508 0.00002
NM_002693.3(POLG):c.2266-44G>T rs1335068171 0.00002
NM_002693.3(POLG):c.2982-31C>T rs2307432 0.00002
NM_002693.3(POLG):c.3104+8C>A rs754615624 0.00002
NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu) rs766196697 0.00002
NM_002693.3(POLG):c.516G>A (p.Ala172=) rs1028326668 0.00002
NM_002693.3(POLG):c.1149G>A (p.Lys383=) rs767256165 0.00001
NM_002693.3(POLG):c.1170+9C>T rs373168754 0.00001
NM_002693.3(POLG):c.1251G>A (p.Arg417=) rs1567191509 0.00001
NM_002693.3(POLG):c.1887C>T (p.Asp629=) rs886051524 0.00001
NM_002693.3(POLG):c.1949+14C>T rs754016118 0.00001
NM_002693.3(POLG):c.2038C>T (p.Leu680=) rs373066911 0.00001
NM_002693.3(POLG):c.2070+27T>C rs1259690556 0.00001
NM_002693.3(POLG):c.2071-48G>T rs1293230481 0.00001
NM_002693.3(POLG):c.2118G>A (p.Glu706=) rs748699275 0.00001
NM_002693.3(POLG):c.2157+10G>T rs751357356 0.00001
NM_002693.3(POLG):c.2426+17G>A rs572105844 0.00001
NM_002693.3(POLG):c.2427-16T>C rs769407407 0.00001
NM_002693.3(POLG):c.2427-20C>T rs1567187412 0.00001
NM_002693.3(POLG):c.2688G>A (p.Leu896=) rs769306875 0.00001
NM_002693.3(POLG):c.31G>A (p.Gly11Ser) rs764055826 0.00001
NM_002693.3(POLG):c.3228C>G (p.Gly1076=) rs777893046 0.00001
NM_002693.3(POLG):c.3258G>A (p.Ser1086=) rs763312940 0.00001
NM_002693.3(POLG):c.3273+6T>A rs886051522 0.00001
NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile) rs1278715599 0.00001
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn) rs765344513 0.00001
NM_002693.3(POLG):c.3610A>T (p.Thr1204Ser) rs761103159 0.00001
NM_002693.3(POLG):c.384G>T (p.Pro128=) rs558958919 0.00001
NM_002693.3(POLG):c.528C>T (p.Thr176=) rs750915606 0.00001
NM_002693.3(POLG):c.855+19A>G rs888039212 0.00001
NM_002693.3(POLG):c.*49G>A rs758880377
NM_002693.3(POLG):c.1023+10C>T rs777477062
NM_002693.3(POLG):c.1023+17G>C rs778750911
NM_002693.3(POLG):c.1024-24A>G rs1567192219
NM_002693.3(POLG):c.1056T>C (p.Ser352=) rs1567192184
NM_002693.3(POLG):c.1171-18C>G rs1567192015
NM_002693.3(POLG):c.1171-30A>G rs761504232
NM_002693.3(POLG):c.1171-37G>T rs1426619872
NM_002693.3(POLG):c.1250+12C>T rs985160740
NM_002693.3(POLG):c.1250+27_1250+28del rs776623760
NM_002693.3(POLG):c.1251-38G>C rs1567191551
NM_002693.3(POLG):c.133_134insGGC (p.Gln44_Gln45insArg) rs1567194472
NM_002693.3(POLG):c.1371G>C (p.Arg457=) rs1567191387
NM_002693.3(POLG):c.137A>G (p.Gln46Arg) rs1555454339
NM_002693.3(POLG):c.1585+22TAGGG[4] rs777442304
NM_002693.3(POLG):c.1586-33_1586-31del rs1567190938
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.3(POLG):c.1674C>G (p.Leu558=) rs552085869
NM_002693.3(POLG):c.1797A>T (p.Thr599=) rs775651351
NM_002693.3(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1950-16A>C rs1310096810
NM_002693.3(POLG):c.1950-32_1950-30del rs1567188748
NM_002693.3(POLG):c.2071-43C>T rs753372873
NM_002693.3(POLG):c.2071-4C>T rs1567188491
NM_002693.3(POLG):c.210G>T (p.Arg70=) rs751225754
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.3(POLG):c.2158-17G>T rs1567188293
NM_002693.3(POLG):c.2265+15A>G rs747993559
NM_002693.3(POLG):c.2409C>T (p.Asn803=) rs1236942179
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.2526C>T (p.Pro842=) rs758903771
NM_002693.3(POLG):c.2735-42A>G rs1258121070
NM_002693.3(POLG):c.2874G>T (p.Gly958=) rs1567186563
NM_002693.3(POLG):c.2896C>T (p.Leu966=) rs1187151579
NM_002693.3(POLG):c.2982-16A>G rs1567185886
NM_002693.3(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.3(POLG):c.3104+64A>G rs1567185722
NM_002693.3(POLG):c.3105-19T>C rs755986798
NM_002693.3(POLG):c.3126G>A (p.Glu1042=) rs766485086
NM_002693.3(POLG):c.3273+34G>A rs1567185382
NM_002693.3(POLG):c.3274-47G>A rs1567185324
NM_002693.3(POLG):c.3390C>T (p.Cys1130=) rs1567185105
NM_002693.3(POLG):c.3456C>G (p.Ala1152=) rs1567185018
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.3483-14T>A rs587781119
NM_002693.3(POLG):c.3640C>G (p.Gln1214Glu) rs781256643
NM_002693.3(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.3(POLG):c.799G>C (p.Val267Leu) rs1567192788
NM_002693.3(POLG):c.82A>T (p.Ser28Cys) rs1567194544
NM_002693.3(POLG):c.855+16C>A rs1567192747
NM_002693.3(POLG):c.975C>G (p.Pro325=) rs551973680

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