ClinVar Miner

List of variants reported as likely benign for colorectal cancer by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (75):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668

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