ClinVar Miner

List of variants studied for colorectal cancer, susceptibility to, 12 by Mendelics

Included ClinVar conditions (3):
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Total variants: 49
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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.51C>G (p.Gly17=) rs780436496 0.00240
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser) rs137860861 0.00024
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr) rs200398117 0.00016
NM_006231.4(POLE):c.926A>G (p.Asn309Ser) rs767060387 0.00008
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004 0.00006
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=) rs201249963 0.00006
NM_006231.4(POLE):c.4901G>A (p.Arg1634His) rs760149463 0.00006
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys) rs116260568 0.00005
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser) rs539312991 0.00005
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.4343A>G (p.Asn1448Ser) rs150545516 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.5843A>G (p.Asp1948Gly) rs372504703 0.00002
NM_006231.4(POLE):c.3276-30C>T rs773248517 0.00001
NM_006231.4(POLE):c.3866G>A (p.Arg1289His) rs781298285 0.00001
NM_006231.4(POLE):c.5398G>A (p.Val1800Met) rs199777048 0.00001
NM_006231.4(POLE):c.5678+3G>A rs1060500826 0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val) rs201273415 0.00001
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr) rs58916399 0.00001
NM_006231.4(POLE):c.6540G>A (p.Ala2180=) rs746976542 0.00001
NM_006231.4(POLE):c.6583G>A (p.Asp2195Asn) rs1472336573 0.00001
NM_006231.4(POLE):c.-6G>A rs534524789
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr) rs5744800
NM_006231.4(POLE):c.2236A>G (p.Ile746Val) rs1480527153
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.2867A>T (p.Tyr956Phe) rs1593776406
NM_006231.4(POLE):c.2869_2870del (p.Ala957fs) rs1593776393
NM_006231.4(POLE):c.2872G>T (p.Val958Leu) rs1443635519
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.5883GGA[3] (p.Glu1966del) rs757774039
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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