ClinVar Miner

List of variants in gene POLE reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.270del (p.Asp90fs) rs878854854 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006231.4(POLE):c.1467_1468del (p.Asp490fs) rs1060500792 0.00001
NM_006231.4(POLE):c.2026+1G>C rs768964210 0.00001
NM_006231.4(POLE):c.2562-2A>C rs751662353 0.00001
NM_006231.4(POLE):c.2706+1G>T rs777844240 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 0.00001
NM_006231.4(POLE):c.3677_3678del (p.Pro1226fs) rs765645032 0.00001
NM_006231.4(POLE):c.424-2A>G rs1555230117 0.00001
NM_006231.4(POLE):c.5174-1G>T rs5744954 0.00001
NM_006231.4(POLE):c.5422C>T (p.Gln1808Ter) rs1167794021 0.00001
NM_006231.4(POLE):c.5812-1G>T rs1296022681 0.00001
NM_006231.4(POLE):c.63-2A>G rs2043162649 0.00001
NM_006231.4(POLE):c.6330+1G>A rs768952241 0.00001
NM_006231.4(POLE):c.6418del (p.Glu2140fs) rs1064794703 0.00001
NM_006231.4(POLE):c.6658-2A>G rs751217859 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006231.4(POLE):c.1020+1G>T rs1064794748
NM_006231.4(POLE):c.1021-1G>C rs1593077673
NM_006231.4(POLE):c.1021-26_1045delinsGTTCTACACC rs1555229232
NM_006231.4(POLE):c.1089C>G (p.Asn363Lys) rs146639652
NM_006231.4(POLE):c.1106+1G>A rs2136010908
NM_006231.4(POLE):c.1106+2T>A rs1593077420
NM_006231.4(POLE):c.1106+2T>C rs1593077420
NM_006231.4(POLE):c.1106+2T>G rs1593077420
NM_006231.4(POLE):c.1107-1G>A
NM_006231.4(POLE):c.1107-1G>T
NM_006231.4(POLE):c.1107-2A>G rs1565975328
NM_006231.4(POLE):c.1226+1G>A rs778501724
NM_006231.4(POLE):c.1226+2_1226+5del rs1593076635
NM_006231.4(POLE):c.1227-1G>A
NM_006231.4(POLE):c.1227-2A>T rs1057517609
NM_006231.4(POLE):c.1359+1G>A rs1473881269
NM_006231.4(POLE):c.1360-1G>A
NM_006231.4(POLE):c.1360-36_1360-1del rs2042973054
NM_006231.4(POLE):c.1473+1G>A
NM_006231.4(POLE):c.1474-1G>C rs1565972026
NM_006231.4(POLE):c.1686+1G>A
NM_006231.4(POLE):c.1686+1G>C rs1555228250
NM_006231.4(POLE):c.1686+2T>C rs2042955507
NM_006231.4(POLE):c.1687-2A>G rs2042947658
NM_006231.4(POLE):c.1794+1G>A
NM_006231.4(POLE):c.1794+2T>A rs2135990079
NM_006231.4(POLE):c.1795-752_1864del rs2042860243
NM_006231.4(POLE):c.1916_1923+16del
NM_006231.4(POLE):c.1923+2T>A rs2135978895
NM_006231.4(POLE):c.2026+1G>T rs768964210
NM_006231.4(POLE):c.2026+2T>C rs2135977645
NM_006231.4(POLE):c.2027-1G>A
NM_006231.4(POLE):c.204+1G>A rs1431917980
NM_006231.4(POLE):c.205-2A>G rs2043148194
NM_006231.4(POLE):c.2091del (p.Leu698fs) rs752846614
NM_006231.4(POLE):c.2319+1G>C
NM_006231.4(POLE):c.2320-2A>G rs2135962410
NM_006231.4(POLE):c.2468+1G>A rs1060500806
NM_006231.4(POLE):c.2469-2A>G
NM_006231.4(POLE):c.2469-2_2469-1del rs2135958616
NM_006231.4(POLE):c.2561+1G>A rs1565961210
NM_006231.4(POLE):c.2561+1G>T rs1565961210
NM_006231.4(POLE):c.2706+1_2706+5del rs779830137
NM_006231.4(POLE):c.2706+2T>C rs1555226411
NM_006231.4(POLE):c.2707-2A>G rs1593777670
NM_006231.4(POLE):c.2731del (p.Gln911fs) rs1555226051
NM_006231.4(POLE):c.285+1G>A
NM_006231.4(POLE):c.286-1G>C
NM_006231.4(POLE):c.286-2A>G rs1593086474
NM_006231.4(POLE):c.2864+1G>A
NM_006231.4(POLE):c.2864+1G>T
NM_006231.4(POLE):c.2865-1G>A
NM_006231.4(POLE):c.2865-2A>G rs867360056
NM_006231.4(POLE):c.2865-2A>T
NM_006231.4(POLE):c.3060+1G>A rs1593775696
NM_006231.4(POLE):c.3060+2T>G rs775843286
NM_006231.4(POLE):c.3264_3275+13del rs761516512
NM_006231.4(POLE):c.3275+1G>A rs1402672053
NM_006231.4(POLE):c.3275+2T>C rs2138673866
NM_006231.4(POLE):c.3276-2A>G rs1060500838
NM_006231.4(POLE):c.330+2T>A rs1425990651
NM_006231.4(POLE):c.331-1G>A rs1555230196
NM_006231.4(POLE):c.331-2A>G rs1565980363
NM_006231.4(POLE):c.3378+3G>T
NM_006231.4(POLE):c.3378+6T>C
NM_006231.4(POLE):c.3415_3420delinsTG (p.Gly1138_Ser1139insTer) rs1555225201
NM_006231.4(POLE):c.3459+1G>A rs1555225184
NM_006231.4(POLE):c.3582+2T>C
NM_006231.4(POLE):c.4005+1G>C
NM_006231.4(POLE):c.4005+1G>T
NM_006231.4(POLE):c.4006-1G>T rs1057519256
NM_006231.4(POLE):c.4006-2A>C
NM_006231.4(POLE):c.4006-2A>T rs1593748950
NM_006231.4(POLE):c.4149+1G>A rs1212936945
NM_006231.4(POLE):c.4149+1G>T
NM_006231.4(POLE):c.4149+2T>C rs1064796760
NM_006231.4(POLE):c.4150-1G>C rs1372928198
NM_006231.4(POLE):c.4150-2A>G rs2042218001
NM_006231.4(POLE):c.4150-388A>G
NM_006231.4(POLE):c.423+1G>A
NM_006231.4(POLE):c.424-1G>A rs1555230115
NM_006231.4(POLE):c.4290+1G>A rs1565940214
NM_006231.4(POLE):c.4290+1G>C rs1565940214
NM_006231.4(POLE):c.4429_4444+1del rs2138549402
NM_006231.4(POLE):c.4440_4444+8del
NM_006231.4(POLE):c.4444+1G>A rs1593734374
NM_006231.4(POLE):c.4444+1G>T
NM_006231.4(POLE):c.4444+1_4444+16del rs2042200333
NM_006231.4(POLE):c.4445-2A>C rs766538692
NM_006231.4(POLE):c.4445-2A>G rs766538692
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.4551+2T>G rs1374395062
NM_006231.4(POLE):c.4551+2_4551+3del rs1251654299
NM_006231.4(POLE):c.4728+1G>C
NM_006231.4(POLE):c.4729-2A>G
NM_006231.4(POLE):c.4952+1G>A
NM_006231.4(POLE):c.4953-2A>G rs2042166568
NM_006231.4(POLE):c.5103_5173+29del rs1565936576
NM_006231.4(POLE):c.5156C>A (p.Ser1719Ter)
NM_006231.4(POLE):c.5173+1G>T rs1060500866
NM_006231.4(POLE):c.5173+2T>C rs1593729195
NM_006231.4(POLE):c.5174-2A>C rs1036643774
NM_006231.4(POLE):c.5174-2A>G rs1036643774
NM_006231.4(POLE):c.5378+1G>T rs747165215
NM_006231.4(POLE):c.5379-5_5384del rs1593722216
NM_006231.4(POLE):c.5552+1G>A rs1555221894
NM_006231.4(POLE):c.5552+2T>C
NM_006231.4(POLE):c.5553-1G>A rs1064796152
NM_006231.4(POLE):c.5678+1G>T
NM_006231.4(POLE):c.5678+2T>C
NM_006231.4(POLE):c.5679-1G>A rs2042025444
NM_006231.4(POLE):c.578+1G>A rs1565979631
NM_006231.4(POLE):c.578+1G>T rs1565979631
NM_006231.4(POLE):c.578+2T>A
NM_006231.4(POLE):c.579-1G>A
NM_006231.4(POLE):c.579-2A>G rs2043088809
NM_006231.4(POLE):c.5811+1G>A rs2042021811
NM_006231.4(POLE):c.5812-1G>A rs1296022681
NM_006231.4(POLE):c.6004+1G>A rs2041988738
NM_006231.4(POLE):c.6136+1G>C rs1593708662
NM_006231.4(POLE):c.6136+1G>T rs1593708662
NM_006231.4(POLE):c.63-1G>A rs2043162603
NM_006231.4(POLE):c.6330+2T>A rs2138459040
NM_006231.4(POLE):c.6331-2A>G rs915158165
NM_006231.4(POLE):c.6532-19_6532-12delinsA
NM_006231.4(POLE):c.6565_6568del (p.Asn2189fs)
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.4(POLE):c.6651_6657+6delinsTGC rs1566308356
NM_006231.4(POLE):c.6658-1G>C
NM_006231.4(POLE):c.6658-1_6667del rs2041802189
NM_006231.4(POLE):c.720+1G>A rs1060500808
NM_006231.4(POLE):c.721-1G>A rs2136018890
NM_006231.4(POLE):c.721-1G>C
NM_006231.4(POLE):c.802-2A>G
NM_006231.4(POLE):c.890C>T (p.Ser297Phe)
NM_006231.4(POLE):c.909+1G>A rs2136015354
NM_006231.4(POLE):c.909+2T>C
NM_006231.4(POLE):c.910-13T>A
NM_006231.4(POLE):c.910-2A>G rs2043047870

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