ClinVar Miner

List of variants reported as pathogenic for Carcinoma of colon by OMIM

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Total variants: 44
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HGVS dbSNP
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_001085377.2(MCC):c.2087G>A (p.Arg696Gln) rs121917732
NM_001085377.2(MCC):c.2663C>T (p.Ala888Val) rs121917731
NM_001163213.1(FGFR3):c.1082-605G>A rs121913111
NM_001163213.1(FGFR3):c.850del (p.His284fs) rs587776836
NM_001211.5(BUB1B):c.119C>T (p.Thr40Met) rs56079734
NM_001330615.1(PPARG):c.735+10744A>C rs121909242
NM_001330615.1(PPARG):c.735+10750G>A rs28936407
NM_001330615.1(PPARG):c.735+10842A>T rs121909243
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter) rs137853038
NM_001429.4(EP300):c.6662C>A (p.Pro2221Gln) rs28937578
NM_001904.4(CTNNB1):c.133_135del (p.Ser45del) rs587776850
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002835.4(PTPN12):c.182A>G (p.Lys61Arg) rs121434623
NM_002843.4(PTPRJ):c.640C>T (p.Arg214Cys) rs121434507
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro) rs1566734
NM_003921.5(BCL10):c.136dup (p.Ile46fs) rs387906351
NM_004333.6(BRAF):c.1385G>T (p.Arg462Ile) rs180177032
NM_004333.6(BRAF):c.1388T>G (p.Ile463Ser) rs180177033
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004336.5(BUB1):c.1475C>A (p.Ser492Tyr) rs121909055
NM_004336.5(BUB1):c.3069del (p.His1024fs) rs587776642
NM_004336.5(BUB1):c.422+1G>A rs794729661
NM_004655.4(AXIN2):c.1994del (p.Gly665fs) rs267606674
NM_004655.4(AXIN2):c.2116G>T (p.Glu706Ter) rs121908567
NM_005037.5(PPARG):c.472del (p.Ser158fs) rs587776687
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005215.4(DCC):c.4124C>A (p.Pro1375His) rs387906555
NM_006207.2(PDGFRL):c.67C>T (p.His23Tyr) rs137853148
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_012415.3(RAD54B):c.1252G>T (p.Asp418Tyr) rs119490107
NM_014381.3(MLH3):c.2482G>T (p.Glu828Ter) rs587776622
NM_138761.4(BAX):c.121del (p.Glu41fs) rs398122840
NM_138761.4(BAX):c.121dup (p.Glu41fs) rs398122840
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp) rs137852930
NM_182643.3(DLC1):c.2875A>G (p.Thr959Ala) rs121908500
m.3308T>C rs28358582

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