List of variants reported as uncertain significance for Lynch syndrome 1 by Ding PR Lab, Sun Yat-sen University Cancer Center

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_002354.3(EPCAM):c.859-6A>G	rs150307203	0.00191
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)	rs116373169	0.00177
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)	rs34374438	0.00036
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr)	rs189732445	0.00020
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)	rs63750114	0.00016
NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys)	rs555329870	0.00016
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)	rs202145681	0.00013
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)	rs191109849	0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)	rs114090343	0.00010
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)	rs4986984	0.00007
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)	rs35045067	0.00005
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)	rs749660228	0.00004
NM_000535.7(PMS2):c.916G>A (p.Val306Met)	rs587780063	0.00004
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)	rs779411998	0.00002
NM_000249.4(MLH1):c.790C>T (p.His264Tyr)	rs63751597	0.00002
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)	rs63751275	0.00001
NM_000249.4(MLH1):c.4T>G (p.Ser2Ala)	rs1448308275	0.00001
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys)	rs886062400	0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)	rs186448384	0.00001
NM_000179.3(MSH6):c.1503T>G (p.His501Gln)	rs1572723237
NM_000179.3(MSH6):c.4001+2TAAC[2]	rs267608132
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)	rs55740729
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)	rs63751596
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro)	rs267607865
NM_000251.3(MSH2):c.1076+8A>T	rs1673084214
NM_000251.3(MSH2):c.2756ATA[1] (p.Asn920del)	rs1573582800
NM_000535.7(PMS2):c.706-4dup	rs60794673
NM_002354.3(EPCAM):c.730C>G (p.Pro244Ala)	rs755757555
NM_002354.3(EPCAM):c.903+5A>G	rs199784016

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