ClinVar Miner

List of variants studied for Mismatch repair cancer syndrome 1; Colorectal cancer, hereditary nonpolyposis, type 2 by GenomeConnect - Invitae Patient Insights Network

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp) rs200830026 0.00005
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln) rs63750266 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
NM_000249.4(MLH1):c.1774A>G (p.Ser592Gly) rs2125984638
NM_000249.4(MLH1):c.649C>A (p.Arg217Ser) rs4986984

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