ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome by All of Us Research Program, National Institutes of Health

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000179.3(MSH6):c.1254_1255del (p.Gln419fs) rs1553412696
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3365_3366insTT (p.Gln1122fs)
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys) rs63751328
NM_000179.3(MSH6):c.3646+2_3646+3insCT rs1269788253
NM_000179.3(MSH6):c.3646G>T (p.Gly1216Ter)
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.3(MSH6):c.3883_3901dup (p.Asn1301delinsThrTer)
NM_000179.3(MSH6):c.3918_3919delinsAGAT (p.Asn1307fs)
NM_000249.4(MLH1):c.1558+1del
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu) rs63750610
NM_000249.4(MLH1):c.1989+2T>C rs1553664119
NM_000249.4(MLH1):c.1989G>C (p.Glu663Asp) rs63751662
NM_000249.4(MLH1):c.2103+2T>C
NM_000251.3(MSH2):c.1759+2T>C rs267607976
NM_000251.3(MSH2):c.1760-1G>A rs587779110
NM_000251.3(MSH2):c.2078del (p.Cys693fs)
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2211-1G>A rs267607979
NM_000251.3(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.164-2A>G rs587779324
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs) rs1785419483
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.988+1G>T rs757110564
NM_000535.7(PMS2):c.988+2T>C

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