ClinVar Miner

List of variants reported as likely benign for Lynch syndrome by Invitae

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002354.3(EPCAM):c.147T>C (p.Thr49=) rs190508047 0.00002
NM_000179.3(MSH6):c.4001+11_4001+35del rs878853743
NM_000179.3(MSH6):c.458-5del rs587781955
NM_000251.3(MSH2):c.1759+11_1759+15del rs878853805
NM_002354.3(EPCAM):c.597T>C (p.Ser199=) rs587780770
NM_002354.3(EPCAM):c.859-6A>C rs150307203

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