ClinVar Miner

List of variants in gene POLE reported by Mendelics

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Total variants: 46
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HGVS dbSNP
NM_006231.3(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.3(POLE):c.1337G>A (p.Arg446Gln) rs151273553
NM_006231.3(POLE):c.139C>T (p.Arg47Trp) rs143626223
NM_006231.3(POLE):c.1534G>A (p.Ala512Thr) rs113998091
NM_006231.3(POLE):c.154C>T (p.Arg52Trp) rs115452881
NM_006231.3(POLE):c.1645T>C (p.Ser549Pro) rs115558715
NM_006231.3(POLE):c.1717C>T (p.Arg573Trp) rs373000452
NM_006231.3(POLE):c.1741G>T (p.Ala581Ser)
NM_006231.3(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.3(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.3(POLE):c.2099C>T (p.Pro700Leu) rs777002868
NM_006231.3(POLE):c.2171C>T (p.Ala724Val) rs61734163
NM_006231.3(POLE):c.2209A>G (p.Thr737Ala) rs779102091
NM_006231.3(POLE):c.2602C>T (p.Leu868=) rs115830215
NM_006231.3(POLE):c.2645A>G (p.Asn882Ser) rs539312991
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.3539_3541AGA[2] (p.Lys1182del) rs1555225139
NM_006231.3(POLE):c.3715C>G (p.Gln1239Glu) rs1565946576
NM_006231.3(POLE):c.3722A>C (p.Glu1241Ala)
NM_006231.3(POLE):c.3865C>T (p.Arg1289Cys) rs770036124
NM_006231.3(POLE):c.4343A>G (p.Asn1448Ser) rs150545516
NM_006231.3(POLE):c.4427T>G (p.Phe1476Cys) rs985504177
NM_006231.3(POLE):c.4476C>G (p.His1492Gln)
NM_006231.3(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.3(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.3(POLE):c.4754T>A (p.Ile1585Asn) rs1565937957
NM_006231.3(POLE):c.4945A>G (p.Met1649Val) rs1565937350
NM_006231.3(POLE):c.5288A>G (p.Gln1763Arg) rs1565935906
NM_006231.3(POLE):c.5312C>T (p.Thr1771Met) rs777695766
NM_006231.3(POLE):c.5398G>A (p.Val1800Met) rs199777048
NM_006231.3(POLE):c.5429A>T (p.His1810Leu) rs777390504
NM_006231.3(POLE):c.5573G>A (p.Arg1858His) rs1445288473
NM_006231.3(POLE):c.5575C>G (p.Leu1859Val) rs184253572
NM_006231.3(POLE):c.5647G>A (p.Ala1883Thr) rs1565931961
NM_006231.3(POLE):c.5883_5885GGA[3] (p.Glu1966del) rs757774039
NM_006231.3(POLE):c.6331-8C>T rs769766403
NM_006231.3(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.3(POLE):c.6433C>T (p.Arg2145Ter) rs1451513451
NM_006231.3(POLE):c.6445C>T (p.Arg2149Cys) rs771490182
NM_006231.3(POLE):c.6581A>G (p.Tyr2194Cys) rs1060500872
NM_006231.3(POLE):c.6668A>G (p.Lys2223Arg) rs367970442
NM_006231.3(POLE):c.6674G>A (p.Arg2225His) rs538875477
NM_006231.3(POLE):c.6747+5G>A rs1555300791
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.940T>G (p.Ser314Ala) rs770403791

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