ClinVar Miner

List of variants in gene POLE reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_006231.4(POLE):c.5707C>T (p.Leu1903=) rs5744990 0.15505
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln) rs149462407 0.00068
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.691C>T (p.Arg231Cys) rs146592584 0.00023
NM_006231.4(POLE):c.5636G>A (p.Arg1879His) rs145621558 0.00018
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.1583C>T (p.Thr528Met) rs116263919 0.00014
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00014
NM_006231.4(POLE):c.1738C>A (p.His580Asn) rs371149234 0.00011
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_006231.4(POLE):c.431A>G (p.His144Arg) rs755709875 0.00009
NM_006231.4(POLE):c.5278G>A (p.Val1760Met) rs373272795 0.00007
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser) rs749342382 0.00006
NM_006231.4(POLE):c.1957G>T (p.Ala653Ser) rs751451482 0.00005
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610 0.00005
NM_006231.4(POLE):c.4477G>A (p.Ala1493Thr) rs748522633 0.00004
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00004
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693 0.00004
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453 0.00003
NM_006231.4(POLE):c.6392G>A (p.Arg2131His) rs141954509 0.00003
NM_006231.4(POLE):c.4090C>T (p.Arg1364Cys) rs770024304 0.00002
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666 0.00002
NM_006231.4(POLE):c.5761A>G (p.Asn1921Asp) rs771980261 0.00002
NM_006231.4(POLE):c.6493C>T (p.Arg2165Cys) rs369549727 0.00002
NM_006231.4(POLE):c.1051G>A (p.Val351Ile) rs759414746 0.00001
NM_006231.4(POLE):c.1107-3C>T rs369572563 0.00001
NM_006231.4(POLE):c.1280C>T (p.Ala427Val) rs878854841 0.00001
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141 0.00001
NM_006231.4(POLE):c.1744C>T (p.Leu582Phe) rs761273376 0.00001
NM_006231.4(POLE):c.218A>G (p.Asp73Gly) rs1060500786 0.00001
NM_006231.4(POLE):c.2711G>C (p.Gly904Ala) rs1332965505 0.00001
NM_006231.4(POLE):c.3223A>T (p.Ser1075Cys) rs145680387 0.00001
NM_006231.4(POLE):c.4012G>A (p.Glu1338Lys) rs751555395 0.00001
NM_006231.4(POLE):c.5221C>T (p.Gln1741Ter) rs781481160 0.00001
NM_006231.4(POLE):c.5270G>T (p.Ser1757Ile) rs878854882 0.00001
NM_006231.4(POLE):c.5591T>C (p.Ile1864Thr) rs896266569 0.00001
NM_006231.4(POLE):c.6257T>C (p.Met2086Thr) rs528752399 0.00001
NM_006231.4(POLE):c.6475C>T (p.Arg2159Cys) rs5745067 0.00001
NM_006231.4(POLE):c.797G>T (p.Arg266Leu) rs115786159 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.1066C>T (p.Pro356Ser) rs1555229220
NM_006231.4(POLE):c.1085A>G (p.Tyr362Cys) rs1368897791
NM_006231.4(POLE):c.167C>T (p.Pro56Leu) rs1555230404
NM_006231.4(POLE):c.1800TGA[3] (p.Asp601dup) rs1593793500
NM_006231.4(POLE):c.1858C>T (p.Pro620Ser) rs979085449
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.4(POLE):c.2908G>A (p.Gly970Ser) rs1480250083
NM_006231.4(POLE):c.3331C>T (p.Arg1111Trp) rs774028311
NM_006231.4(POLE):c.3670_3671delinsTT (p.Ala1224Leu) rs864622698
NM_006231.4(POLE):c.3863C>T (p.Ala1288Val) rs1467975024
NM_006231.4(POLE):c.4892G>T (p.Arg1631Leu) rs775590365
NM_006231.4(POLE):c.5552+1G>A rs1555221894
NM_006231.4(POLE):c.6016G>T (p.Ala2006Ser) rs1328375671
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070

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