ClinVar Miner

List of variants reported as likely benign for colorectal neoplasm by CSER _CC_NCGL, University of Washington

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr) rs137953986 0.00253
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584 0.00001
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420

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