ClinVar Miner

List of variants studied for colorectal cancer, susceptibility to, 12 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006231.4(POLE):c.274A>C (p.Ser92Arg) rs758382516 0.00003
NM_006231.4(POLE):c.626A>G (p.Lys209Arg) rs754559038 0.00002
NM_006231.4(POLE):c.4996A>G (p.Thr1666Ala) rs761329946 0.00001
NM_006231.4(POLE):c.5036G>A (p.Arg1679His) rs748940418 0.00001
NM_006231.4(POLE):c.5215A>G (p.Ile1739Val) rs1064794641 0.00001
NM_006231.4(POLE):c.1142T>A (p.Leu381Gln)
NM_006231.4(POLE):c.2210C>A (p.Thr737Asn) rs755089034
NM_006231.4(POLE):c.3339G>A (p.Trp1113Ter) rs757377081
NM_006231.4(POLE):c.6271C>T (p.Pro2091Ser) rs572252265
NM_006231.4(POLE):c.6496G>A (p.Asp2166Asn) rs759795841

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