ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1130_1134AGAGA[1] (p.Arg378_Arg379insTer) rs267608077
NM_000179.2(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1615_1617CTT[1] (p.Leu540del) rs1064793600
NM_000179.2(MSH6):c.2079dup (p.Cys694fs) rs267608083
NM_000179.2(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.2(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.2(MSH6):c.2846_2847AG[1] (p.Ser950fs) rs869312770
NM_000179.2(MSH6):c.3067G>T (p.Glu1023Ter) rs267608059
NM_000179.2(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.2(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767
NM_000249.3(MLH1):c.100G>A (p.Glu34Lys) rs1559500884
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.113A>C (p.Asn38Thr) rs587778888
NM_000249.3(MLH1):c.131C>A (p.Ser44Tyr) rs63751109
NM_000249.3(MLH1):c.1731+2T>C rs267607856
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.1979T>C (p.Leu660Pro) rs1559591546
NM_000249.3(MLH1):c.1989+5G>C rs267607878
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.207+5G>C rs587781518
NM_000249.3(MLH1):c.2104-1G>A rs587778978
NM_000249.3(MLH1):c.25_26delinsTA (p.Arg9Ter) rs869312767
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.380+1G>T rs267607745
NM_000249.3(MLH1):c.453+2T>G rs267607751
NM_000249.3(MLH1):c.790+3A>T rs267607792
NM_000249.3(MLH1):c.790+5G>A rs267607771
NM_000249.3(MLH1):c.793_794delinsGT (p.Arg265Val) rs1559539068
NM_000251.2(MSH2):c.(?_-68)_1076+?del
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1077-1G>T rs267607944
NM_000251.2(MSH2):c.1201_1202dup (p.Leu401fs) rs869312768
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1277-1G>A rs267607948
NM_000251.2(MSH2):c.1277-?_1661+?del
NM_000251.2(MSH2):c.1511-1G>A rs267607964
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1759+1G>T
NM_000251.2(MSH2):c.2634+1G>T rs267608019
NM_000251.2(MSH2):c.2634+2T>C rs876660546
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.366+1G>A rs267607924
NM_000251.2(MSH2):c.366+2T>C rs1558457533
NM_000251.2(MSH2):c.793-2A>C rs267607933
NM_000251.2(MSH2):c.929T>G (p.Leu310Arg) rs63750640
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
NM_000535.6(PMS2):c.904-?_1144+?del
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695

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