ClinVar Miner

List of variants reported as pathogenic for colorectal neoplasm by Mendelics

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) rs63750636 0.00001
NM_000038.6(APC):c.1798del (p.Thr600fs) rs2149841625
NM_000038.6(APC):c.412G>T (p.Glu138Ter) rs1756477033
NM_000038.6(APC):c.4434_4437del (p.Arg1478fs) rs2149914657
NM_000038.6(APC):c.833_834insT (p.Gln278fs) rs2149712600
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter) rs1114167791
NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter) rs1482228994
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.4(MLH1):c.1972del (p.Leu658fs)
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.4(MLH1):c.2153A>C (p.His718Pro) rs587778983
NM_000249.4(MLH1):c.514G>T (p.Glu172Ter) rs1559524405
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.4(MLH1):c.791-1G>C rs267607795
NM_000249.4(MLH1):c.791-5T>G rs267607788
NM_000251.3(MSH2):c.1058del (p.Lys353fs) rs1573456772
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.3(MSH2):c.1511-1G>T rs267607964
NM_000251.3(MSH2):c.174dup (p.Lys59fs) rs1672250622
NM_000251.3(MSH2):c.1801_1805del (p.Gln601fs) rs1573566488
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter) rs730881784
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro) rs1318630651
NM_000251.3(MSH2):c.2299del (p.Ser767fs) rs1573574024
NM_000251.3(MSH2):c.2332dup (p.Cys778fs) rs1573574188
NM_000251.3(MSH2):c.2352del (p.His785fs) rs1667395869
NM_000251.3(MSH2):c.2461_2462del (p.Val821fs) rs1114167828
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter) rs63750291
NM_000251.3(MSH2):c.644del (p.Gln215fs) rs1558459885
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe) rs63750828
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter) rs1583363851
NM_001429.4(EP300):c.3875-2A>C rs2145762711
NM_001429.4(EP300):c.4783T>A (p.Phe1595Ile) rs1057517732
NM_001904.4(CTNNB1):c.1081+1G>T rs2078201673
NM_001904.4(CTNNB1):c.735-1G>C rs2125623951
NM_004333.6(BRAF):c.1591T>C (p.Trp531Arg) rs2129018408

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