ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del) rs1553664506
NM_000535.7(PMS2):c.23+21_23+28del rs1554308880
NM_000535.7(PMS2):c.860dup (p.Gln288fs) rs2128775362
Single allele

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