ClinVar Miner

List of variants studied for Lynch syndrome by A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000179.2(MSH6):c.1338A>T (p.Glu446Asp) rs587779211
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1932G>C (p.Arg644Ser) rs34938432
NM_000179.2(MSH6):c.3487G>T (p.Glu1163Ter) rs587779267
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.2027T>C (p.Leu676Pro) rs63750242
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2224C>T (p.Gln742Ter) rs587778992
NM_000249.3(MLH1):c.545+3A>G rs267607760
NM_000249.3(MLH1):c.588+2T>A rs587779024
NM_000249.3(MLH1):c.588+5G>C rs267607768
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.779T>G (p.Leu260Arg) rs63751283
NM_000249.3(MLH1):c.791-4_795del rs587779041
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000251.2(MSH2):c.1444A>T (p.Arg482Ter) rs587779092
NM_000251.2(MSH2):c.1447G>T (p.Glu483Ter) rs63749947
NM_000251.2(MSH2):c.1667del (p.Lys555_Leu556insTer) rs267607694
NM_000251.2(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.2(MSH2):c.1967_1970dup (p.Phe657fs) rs587779118
NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.2(MSH2):c.518T>G (p.Leu173Arg) rs63750070
NM_000251.2(MSH2):c.528_529delTG rs587779164
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_001167617.2(MLH1):c.1345_1349dup (p.Leu451fs) rs587778934
NM_001258281.1(MSH2):c.2325_2326AG[1] (p.Glu776fs) rs587779148
NM_001281492.1(MSH6):c.1989_1990del (p.Ala664fs) rs587779237
NM_001281492.1(MSH6):c.3581_3583AGA[1] (p.Lys1195del) rs587779300
NM_001354630.1(MLH1):c.1732-877delinsTTCTT rs587778949

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