ClinVar Miner

List of variants in gene POLE reported as likely benign by Mendelics

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.1597G>A (p.Val533Met) rs374140892 0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu) rs373768478 0.00018
NM_006231.4(POLE):c.154C>T (p.Arg52Trp) rs115452881 0.00016
NM_006231.4(POLE):c.6674G>A (p.Arg2225His) rs538875477 0.00012
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=) rs201249963 0.00006
NM_006231.4(POLE):c.3939G>A (p.Thr1313=) rs150282789 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln) rs754518522 0.00004
NM_006231.4(POLE):c.1021-11C>T rs781431436 0.00003
NM_006231.4(POLE):c.3090C>T (p.Phe1030=) rs766306895 0.00003
NM_006231.4(POLE):c.3228C>T (p.Cys1076=) rs767929667 0.00003
NM_006231.4(POLE):c.3276-30C>T rs773248517 0.00001
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys) rs985504177 0.00001
NM_006231.4(POLE):c.5678+3G>A rs1060500826 0.00001
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys) rs749992643 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.6540G>A (p.Ala2180=) rs746976542 0.00001
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp) rs866548835 0.00001
NM_006231.4(POLE):c.1520T>C (p.Val507Ala) rs904849438
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2340G>C (p.Ser780=) rs5744822
NM_006231.4(POLE):c.2811C>T (p.Tyr937=) rs1593777350
NM_006231.4(POLE):c.2865-17_2865-14dup rs369732588
NM_006231.4(POLE):c.2865-3C>T rs1203095918
NM_006231.4(POLE):c.2865-3_2865del rs1593776411
NM_006231.4(POLE):c.3275+38_3275+88del rs1565955594
NM_006231.4(POLE):c.3582+34G>A rs753702996
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.5679-3C>T rs1555221512
NM_006231.4(POLE):c.6137-50C>T rs779908266
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585

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