ClinVar Miner

List of variants reported as uncertain significance for colorectal cancer, susceptibility to, 12 by Mendelics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158 0.00065
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.1288G>A (p.Ala430Thr) rs140566004 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.4343A>G (p.Asn1448Ser) rs150545516 0.00004
NM_006231.4(POLE):c.5843A>G (p.Asp1948Gly) rs372504703 0.00002
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.6166G>A (p.Ala2056Thr) rs58916399 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.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.5883GGA[3] (p.Glu1966del) rs757774039

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