ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome by Counsyl

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP
NM_000179.2 (MSH6):c.3984_3987dupGTCA (p.Leu1330Valfs) rs267608121
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.2(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter) rs63750909
NM_000179.2(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.467C>G (p.Ser156Ter) rs63749873
NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1559-2A>G rs267607836
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.589-2A>G rs267607767
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.1203dup (p.Gln402fs) rs63750586
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.2(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.2(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.2334C>A (p.Cys778Ter) rs63750618
NM_000251.2(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.2(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000251.2(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.2(MSH2):c.905T>A (p.Leu302Ter) rs63749914
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000535.7(PMS2):c.2174+1G>A rs267608172
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2239_2242AGAA[1] (p.Lys748fs) rs267608173
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_001167617.2(MLH1):c.1195dup (p.Arg399fs) rs63750855
NM_001167617.2(MLH1):c.1958_1959del (p.Lys653fs) rs267607901
NM_001258281.1(MSH2):c.2325_2326AG[1] (p.Glu776fs) rs587779148
NM_001281492.1(MSH6):c.1760_1763del (p.Val587fs) rs267608058
NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) rs587779241
NM_001281492.1(MSH6):c.2871dup (p.Phe958fs) rs267608078
NM_001281492.1(MSH6):c.3124dup (p.Arg1042fs) rs63751327
NM_001281492.1(MSH6):c.3309_3312del (p.Lys1103fs) rs193922343
NM_001281492.1(MSH6):c.3457_3460dup (p.Thr1154fs) rs267608128
NM_001281492.1(MSH6):c.3569_3572del (p.Ala1190fs) rs267608120
NM_001354621.1(MLH1):c.-13dup rs63750677
NM_001354630.1(MLH1):c.1732-885GAA[2] rs63751247

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