ClinVar Miner

List of variants in gene POLE reported by True Health Diagnostics

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.4444+4T>A rs5744941 0.05640
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02649
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_006231.4(POLE):c.2928C>T (p.Arg976=) rs5744845 0.00958
NM_006231.4(POLE):c.5583A>C (p.Ser1861=) rs5744972 0.00949
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00843
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00587
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00487
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.123G>A (p.Thr41=) rs5744734 0.00303
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_006231.4(POLE):c.2106G>T (p.Gly702=) rs5744801 0.00198
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00174
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00127
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00090
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00076
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00074
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00051
NM_006231.4(POLE):c.4730A>C (p.Glu1577Ala) rs5744948 0.00047
NM_006231.4(POLE):c.5496T>C (p.Leu1832=) rs147543146 0.00037
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His) rs201744227 0.00016
NM_006231.4(POLE):c.6004+5G>T rs372169366 0.00013
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
NM_006231.4(POLE):c.3857G>A (p.Arg1286His) rs771823596 0.00005
NM_006231.4(POLE):c.4582G>A (p.Ala1528Thr) rs373468985 0.00005
NM_006231.4(POLE):c.5595C>T (p.Tyr1865=) rs370958363 0.00004
NM_006231.4(POLE):c.2276G>A (p.Arg759His) rs746774432 0.00003
NM_006231.4(POLE):c.3970C>T (p.Arg1324Cys) rs779464847 0.00003
NM_006231.4(POLE):c.5002G>A (p.Gly1668Ser) rs371348453 0.00003
NM_006231.4(POLE):c.6135C>T (p.Pro2045=) rs368662693 0.00003
NM_006231.4(POLE):c.1856G>A (p.Cys619Tyr) rs752456199 0.00001
NM_006231.4(POLE):c.1878C>T (p.Asp626=) rs771910847 0.00001
NM_006231.4(POLE):c.2982C>T (p.Leu994=) rs771463033 0.00001
NM_006231.4(POLE):c.369G>A (p.Lys123=) rs1328407908 0.00001
NM_006231.4(POLE):c.3787A>G (p.Thr1263Ala) rs1025864203 0.00001
NM_006231.4(POLE):c.5084G>A (p.Gly1695Asp) rs920535000 0.00001
NM_006231.4(POLE):c.5104A>G (p.Asn1702Asp) rs1431532125 0.00001
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.3198C>A (p.Asp1066Glu) rs1555225663
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del) rs878854896

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