ClinVar Miner

List of variants studied for Carcinoma of esophagus

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ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) rs148924904 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000141.5(FGFR2):c.1141T>C (p.Tyr381His) rs387906678
NM_000141.5(FGFR2):c.1144T>C (p.Cys382Arg) rs121913474
NM_000141.5(FGFR2):c.1145G>A (p.Cys382Tyr) rs1057519900
NM_000546.6(TP53):c.332T>A (p.Leu111Gln) rs1057519997
NM_000546.6(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.6(TP53):c.332T>G (p.Leu111Arg) rs1057519997
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.6(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.6(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_000546.6(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.641A>T (p.His214Leu) rs1057519992
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.6(TP53):c.647T>A (p.Val216Glu) rs1057520004
NM_000546.6(TP53):c.647T>G (p.Val216Gly) rs1057520004
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.6(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.6(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.6(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.6(TP53):c.726C>G (p.Cys242Trp) rs375874539
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.730G>C (p.Gly244Arg) rs1057519989
NM_000546.6(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.731G>T (p.Gly244Val) rs985033810
NM_000546.6(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.6(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.6(TP53):c.764T>G (p.Ile255Ser) rs876659675
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_000546.6(TP53):c.808T>A (p.Phe270Ile) rs1057519988
NM_000546.6(TP53):c.808T>G (p.Phe270Val) rs1057519988
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.810T>G (p.Phe270Leu) rs1057519987
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_000546.6(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.6(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly) rs867384286
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys) rs867384286
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His) rs1057519895
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro) rs1057519895
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu) rs1057519895
NM_001349798.2(FBXW7):c.1513C>A (p.Arg505Ser) rs149680468
NM_001349798.2(FBXW7):c.1513C>G (p.Arg505Gly) rs149680468
NM_001349798.2(FBXW7):c.1513C>T (p.Arg505Cys) rs149680468
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_001349798.2(FBXW7):c.1514G>T (p.Arg505Leu) rs1057519896
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
NM_001664.4(RHOA):c.13C>T (p.Arg5Trp) rs1057519952
NM_001664.4(RHOA):c.14G>A (p.Arg5Gln) rs1057519953
NM_001664.4(RHOA):c.14G>T (p.Arg5Leu) rs1057519953
NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro) rs121913228
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala) rs121913228
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) rs121913403
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr) rs1057519886
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro) rs1057519886
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala) rs1057519886
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002467.6(MYC):c.173C>T (p.Pro58Leu) rs1057519918
NM_002467.6(MYC):c.217A>C (p.Thr73Pro) rs750664148
NM_002467.6(MYC):c.218C>T (p.Thr73Ile) rs756091827
NM_004448.4(ERBB2):c.2305G>A (p.Asp769Asn) rs121913468
NM_004448.4(ERBB2):c.2305G>C (p.Asp769His) rs121913468
NM_004448.4(ERBB2):c.2305G>T (p.Asp769Tyr) rs121913468
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly) 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.1082G>C (p.Arg361Pro) rs377767347
NM_005359.6(SMAD4):c.1156G>A (p.Gly386Ser) rs1057519962
NM_005359.6(SMAD4):c.1156G>T (p.Gly386Cys) rs1057519962
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005359.6(SMAD4):c.1157G>C (p.Gly386Ala) rs121912580
NM_005359.6(SMAD4):c.1157G>T (p.Gly386Val) rs121912580
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala) rs1057519927
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly) rs1057519927
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val) rs1057519927
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.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150

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