ClinVar Miner

List of variants studied for colorectal cancer, susceptibility to, 12 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_006231.4(POLE):c.6508T>C (p.Cys2170Arg) rs138094751 0.00004
NM_001101362.3(KBTBD13):c.1309C>T (p.Gln437Ter)
NM_006231.4(POLE):c.1372T>C (p.Tyr458His)

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