ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome by Mendelics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000179.2(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.3(MLH1):c.514G>T (p.Glu172Ter) rs1559524405
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.791-5T>G rs267607788
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.1226_1227del (p.Gln409fs) rs63750086
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.2459_2460GT[1] (p.Val821fs) rs1114167828
NM_000251.2(MSH2):c.2581C>T (p.Gln861Ter) rs63750291
NM_000251.2(MSH2):c.644del (p.Gln215fs) rs1558459885
NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) rs267608154

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