ClinVar Miner

List of variants reported as likely pathogenic for colorectal cancer by Illumina Laboratory Services, Illumina

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000179.3(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153

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