ClinVar Miner

List of variants reported as pathogenic for colorectal cancer by Zotz-Klimas Genetics Lab, MVZ Zotz Klimas

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) rs63749873 0.00001
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000251.3(MSH2):c.1447_1448del (p.Glu483fs) rs63750161
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.354-1G>A rs786203954

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