ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome 1; Muir-Torré syndrome; Mismatch repair cancer syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.1276+1G>T rs267607950
NM_000251.3(MSH2):c.1661+1G>T rs267607969
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn) rs63750597
NM_000251.3(MSH2):c.1789_1790insT (p.Asp597fs)
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2699C>G (p.Ser900Ter) rs878853814
NM_000251.3(MSH2):c.942+2_942+4del rs767111319
NM_000251.3(MSH2):c.942+2del rs587779194

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