ClinVar Miner

List of variants reported as pathogenic for Neoplasm of the large intestine by Database of Curated Mutations (DoCM)

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441 0.00001
NM_004985.5(KRAS):c.437C>T (p.Ala146Val) rs1057519725 0.00001
NM_000314.8(PTEN):c.477G>T (p.Arg159Ser) rs1057519724
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.800del (p.Lys267fs) rs121913289
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004985.5(KRAS):c.181C>A (p.Gln61Lys) rs121913238
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg) rs121913240
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) rs121913530
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) rs121913535
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys) rs121913535
NM_004985.5(KRAS):c.38G>T (p.Gly13Val) rs112445441
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_005359.6(SMAD4):c.1051G>A (p.Asp351Asn) rs1057519739
NM_005359.6(SMAD4):c.1051G>C (p.Asp351His) rs1057519739
NM_005359.6(SMAD4):c.1065C>A (p.Asp355Glu) rs1057519740
NM_005359.6(SMAD4):c.1081C>A (p.Arg361Ser) rs80338963
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1609G>T (p.Asp537Tyr) rs1057519741
NM_005359.6(SMAD4):c.989A>C (p.Glu330Ala) rs281875324
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1634A>T (p.Glu545Val) rs121913274
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1645G>A (p.Asp549Asn) rs1057519699
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_033360.4(KRAS):c.351A>T (p.Lys117Asn) rs770248150
NM_033360.4(KRAS):c.37G>A (p.Gly13Ser) rs121913535
NM_033360.4(KRAS):c.38G>C (p.Gly13Ala) rs112445441
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527

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