ClinVar Miner

List of variants in gene POLE studied for Colorectal cancer, susceptibility to, 12; Facial dysmorphism, immunodeficiency, livedo, and short stature

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Total variants: 47
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HGVS dbSNP
NM_006231.3(POLE):c.1041G>T (p.Trp347Cys) rs1048183984
NM_006231.3(POLE):c.1064A>G (p.Lys355Arg) rs141396559
NM_006231.3(POLE):c.1108C>A (p.Pro370Thr) rs576578672
NM_006231.3(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.3(POLE):c.154C>T (p.Arg52Trp) rs115452881
NM_006231.3(POLE):c.1784A>G (p.Asn595Ser) rs969500436
NM_006231.3(POLE):c.1868A>G (p.Tyr623Cys) rs150564856
NM_006231.3(POLE):c.198G>A (p.Met66Ile) rs764962999
NM_006231.3(POLE):c.2090C>T (p.Pro697Leu) rs36120395
NM_006231.3(POLE):c.2113C>T (p.Arg705Trp) rs200621883
NM_006231.3(POLE):c.2131T>C (p.Ser711Pro) rs374800058
NM_006231.3(POLE):c.2276G>A (p.Arg759His) rs746774432
NM_006231.3(POLE):c.2359G>A (p.Asp787Asn) rs878854851
NM_006231.3(POLE):c.2362G>A (p.Ala788Thr) rs896350761
NM_006231.3(POLE):c.2384A>G (p.Lys795Arg) rs867677414
NM_006231.3(POLE):c.266A>C (p.Asp89Ala) rs756843283
NM_006231.3(POLE):c.2683G>A (p.Ala895Thr) rs201115064
NM_006231.3(POLE):c.2706+11G>C rs1555226410
NM_006231.3(POLE):c.274A>C (p.Ser92Arg) rs758382516
NM_006231.3(POLE):c.2773T>C (p.Ser925Pro) rs141552148
NM_006231.3(POLE):c.3230G>A (p.Arg1077His) rs768950975
NM_006231.3(POLE):c.3652G>A (p.Val1218Ile) rs756246229
NM_006231.3(POLE):c.3857G>A (p.Arg1286His) rs771823596
NM_006231.3(POLE):c.4145G>A (p.Arg1382His) rs143229302
NM_006231.3(POLE):c.4172C>G (p.Ser1391Cys) rs149145495
NM_006231.3(POLE):c.4270G>A (p.Glu1424Lys) rs575419120
NM_006231.3(POLE):c.4285A>T (p.Thr1429Ser) rs759497382
NM_006231.3(POLE):c.431A>G (p.His144Arg) rs755709875
NM_006231.3(POLE):c.4450A>C (p.Ile1484Leu) rs772734618
NM_006231.3(POLE):c.4477G>A (p.Ala1493Thr) rs748522633
NM_006231.3(POLE):c.4513C>G (p.Pro1505Ala) rs878854873
NM_006231.3(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.3(POLE):c.4603G>A (p.Gly1535Ser) rs138564205
NM_006231.3(POLE):c.4759G>A (p.Val1587Ile) rs372388555
NM_006231.3(POLE):c.4901G>A (p.Arg1634His) rs760149463
NM_006231.3(POLE):c.5035C>T (p.Arg1679Cys) rs768244569
NM_006231.3(POLE):c.5382C>G (p.Ile1794Met) rs368364666
NM_006231.3(POLE):c.575C>T (p.Ser192Phe) rs1060500891
NM_006231.3(POLE):c.5761A>G (p.Asn1921Asp) rs771980261
NM_006231.3(POLE):c.5866G>A (p.Glu1956Lys) rs749992643
NM_006231.3(POLE):c.6050G>A (p.Arg2017His) rs144178150
NM_006231.3(POLE):c.6445C>T (p.Arg2149Cys) rs771490182
NM_006231.3(POLE):c.6476G>A (p.Arg2159His) rs373092830
NM_006231.3(POLE):c.6674G>A (p.Arg2225His) rs538875477
NM_006231.3(POLE):c.6730C>T (p.Leu2244Phe) rs375741031
NM_006231.3(POLE):c.68A>G (p.Asp23Gly) rs765898876
NM_006231.3(POLE):c.73G>T (p.Ala25Ser) rs773204331

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