ClinVar Miner

List of variants reported as likely benign for Lynch syndrome by University of Washington Department of Laboratory Medicine, University of Washington

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001 0.00203
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261 0.00019
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys) rs587782651 0.00012
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000179.3(MSH6):c.3801+5G>A rs201080919 0.00004
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr) rs63751145 0.00004
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val) rs201613780 0.00003
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=) rs747771350 0.00003
NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn) rs147737737 0.00001
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=) rs540252208 0.00001
NM_000251.3(MSH2):c.763A>G (p.Ser255Gly) rs761529282 0.00001
NC_000002.12:g.47142010_47142443dup
NM_000179.3(MSH6):c.1021T>G (p.Ser341Ala) rs1558660119
NM_000179.3(MSH6):c.1207C>A (p.Leu403Ile) rs876659223
NM_000179.3(MSH6):c.133G>T (p.Gly45Cys) rs978968846
NM_000179.3(MSH6):c.1400G>A (p.Gly467Asp) rs1558661547
NM_000179.3(MSH6):c.1904G>A (p.Arg635Lys) rs1558663439
NM_000179.3(MSH6):c.261-14C>T rs369366445
NM_000179.3(MSH6):c.3029C>T (p.Thr1010Ile) rs768925694
NM_000179.3(MSH6):c.3126A>C (p.Lys1042Asn) rs1558668218
NM_000179.3(MSH6):c.3964G>A (p.Glu1322Lys) rs1553333707
NM_000179.3(MSH6):c.4018A>G (p.Ser1340Gly) rs1558395603
NM_000179.3(MSH6):c.475G>A (p.Ala159Thr) rs1553411396
NM_000179.3(MSH6):c.511G>C (p.Glu171Gln) rs1558656518
NM_000179.3(MSH6):c.542A>C (p.Glu181Ala) rs1558656620
NM_000179.3(MSH6):c.911T>C (p.Val304Ala) rs1481054050
NM_000179.3(MSH6):c.971A>G (p.Lys324Arg) rs1558659961
NM_000249.4(MLH1):c.1267A>G (p.Arg423Gly) rs1392665848
NM_000249.4(MLH1):c.1960C>T (p.Pro654Ser) rs1559591314
NM_000249.4(MLH1):c.716C>T (p.Ala239Val) rs1559534371
NM_000249.4(MLH1):c.836T>G (p.Val279Gly) rs1553646683
NM_000251.3(MSH2):c.12G>T (p.Gln4His) rs878853800
NM_000251.3(MSH2):c.1850T>C (p.Val617Ala) rs1260310695
NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro) rs1428704795
NM_000251.3(MSH2):c.2317A>G (p.Lys773Glu) rs1558521813
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.271G>C (p.Asp91His) rs1558457163
NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys) rs1558464315
NM_000535.7(PMS2):c.1533G>T (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser) rs1562615666

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