ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (18):
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Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999
NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.306+5G>A rs267607735
NM_000249.3(MLH1):c.588+5G>A rs267607768
NM_000249.3(MLH1):c.885-1G>A rs1553647894
NM_000251.2(MSH2):c.1076+1G>A rs267607940
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.868G>T (p.Glu290Ter) rs587779190
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_002354.2(EPCAM):c.556-14A>G rs376155665
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819

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