ClinVar Miner

List of variants in gene POLE reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 61
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HGVS dbSNP
NM_006231.3(POLE):c.1188G>A (p.Glu396=) rs371717068
NM_006231.3(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.3(POLE):c.1347G>A (p.Thr449=) rs142373951
NM_006231.3(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.3(POLE):c.1468G>A (p.Asp490Asn) rs755463796
NM_006231.3(POLE):c.1516A>G (p.Met506Val) rs773634913
NM_006231.3(POLE):c.154C>T (p.Arg52Trp) rs115452881
NM_006231.3(POLE):c.1591G>A (p.Gly531Arg) rs748489355
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.1735C>T (p.Arg579Cys) rs116260568
NM_006231.3(POLE):c.177G>C (p.Lys59Asn) rs753360358
NM_006231.3(POLE):c.2255_2257del (p.Ser752del) rs878854850
NM_006231.3(POLE):c.2362G>A (p.Ala788Thr) rs896350761
NM_006231.3(POLE):c.2377C>T (p.Arg793Cys) rs376624527
NM_006231.3(POLE):c.2599G>A (p.Val867Ile) rs374200895
NM_006231.3(POLE):c.2683G>A (p.Ala895Thr) rs201115064
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.3049C>T (p.Leu1017=) rs371831931
NM_006231.3(POLE):c.3121C>T (p.Arg1041Trp) rs762140272
NM_006231.3(POLE):c.3459+8C>T rs375852759
NM_006231.3(POLE):c.3851G>A (p.Arg1284Gln) rs149462407
NM_006231.3(POLE):c.3912C>T (p.Pro1304=) rs116482376
NM_006231.3(POLE):c.4046C>T (p.Ala1349Val) rs536988344
NM_006231.3(POLE):c.4055G>C (p.Gly1352Ala) rs147088333
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4229A>C (p.His1410Pro) rs1313711311
NM_006231.3(POLE):c.4478_4479CA[1] (p.Gln1494fs)
NM_006231.3(POLE):c.4582G>A (p.Ala1528Thr) rs373468985
NM_006231.3(POLE):c.4738C>T (p.Arg1580Trp) rs192908615
NM_006231.3(POLE):c.4941C>T (p.Phe1647=) rs145639967
NM_006231.3(POLE):c.5013C>A (p.Leu1671=) rs1260912213
NM_006231.3(POLE):c.5478G>T (p.Arg1826=) rs537648186
NM_006231.3(POLE):c.561C>T (p.Tyr187=) rs143938822
NM_006231.3(POLE):c.5659G>A (p.Val1887Met) rs114119067
NM_006231.3(POLE):c.5769C>T (p.Gly1923=) rs375198950
NM_006231.3(POLE):c.594C>T (p.Gly198=) rs140185156
NM_006231.3(POLE):c.6012C>T (p.Ile2004=) rs147806951
NM_006231.3(POLE):c.6134C>G (p.Pro2045Arg) rs1555220951
NM_006231.3(POLE):c.6156G>A (p.Gln2052=) rs149841283
NM_006231.3(POLE):c.631A>T (p.Ile211Leu) rs1064796126
NM_006231.3(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.3(POLE):c.6445C>T (p.Arg2149Cys) rs771490182
NM_006231.3(POLE):c.6446G>A (p.Arg2149His) rs201165149
NM_006231.3(POLE):c.6453C>T (p.Tyr2151=) rs116076060
NM_006231.3(POLE):c.6508T>C (p.Cys2170Arg) rs138094751
NM_006231.3(POLE):c.6531+6G>T rs774747998
NM_006231.3(POLE):c.6597C>T (p.Ile2199=) rs147611144
NM_006231.3(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006231.3(POLE):c.6658-7C>A rs531482240
NM_006231.3(POLE):c.6675C>T (p.Arg2225=) rs149973644
NM_006231.3(POLE):c.6730C>T (p.Leu2244Phe) rs375741031
NM_006231.3(POLE):c.6763A>T (p.Ile2255Phe) rs73155056
NM_006231.3(POLE):c.6820C>G (p.Leu2274Val) rs148788180
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.3(POLE):c.819A>G (p.Ala273=) rs1185171180
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.912C>T (p.Gly304=) rs1064794932
NM_006231.4(POLE):c.4729G>A (p.Glu1577Lys)
NM_006231.4(POLE):c.4804G>A (p.Val1602Ile)
NM_006231.4(POLE):c.5379-5_5384del
NM_006231.4(POLE):c.6076A>G (p.Arg2026Gly)

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