ClinVar Miner

List of variants reported as likely pathogenic for Carcinoma of colon

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Total variants: 41
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HGVS dbSNP
NM_000038.6(APC):c.2928_2929del (p.Gly977fs)
NM_000038.6(APC):c.532-8G>A rs1060503323
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter) rs756160533
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs) rs886040557
NM_000136.3(FANCC):c.595dup (p.Leu199fs) rs1057519366
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) rs63750523
NM_000179.3(MSH6):c.2504del (p.Gln835fs) rs1572727440
NM_000179.3(MSH6):c.3477C>A rs398123231
NM_000179.3(MSH6):c.3557-3_3573del
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.116+3A>G rs1553637475
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.208-3C>T rs267607720
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.3(MLH1):c.454-13A>G rs267607749
NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile)
NM_000249.4(MLH1):c.2059C>T rs63751275
NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs)
NM_000249.4(MLH1):c.250A>G rs63750641
NM_000251.2(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.2(MSH2):c.1807G>A (p.Asp603Asn) rs63750657
NM_000251.2(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.2(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del) rs587779165
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_001048171.1(MUTYH):c.697C>T (p.Arg233Ter) rs587782885
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_002912.4(REV3L):c.559A>T (p.Arg187Trp) rs1057519367
NM_021922.2(FANCE):c.598C>T (p.Arg200Cys) rs763151358
NM_024675.4(PALB2):c.892_893del (p.Val298fs)
NM_032043.2(BRIP1):c.1702_1703del (p.Asn568fs) rs1057519365

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