ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843
NM_000179.2(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139
NM_000249.3(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.3(MLH1):c.545+3A>G rs267607760
NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.2(MSH2):c.2633_2634delAG rs63751618
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451
NM_001281493.1(MSH6):c.-256dup rs63750955

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