ClinVar Miner

List of variants reported as likely pathogenic for Squamous cell lung carcinoma by Database of Curated Mutations (DoCM)

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ClinVar version:
Total variants: 270
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HGVS dbSNP gnomAD frequency
NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg) rs34192549 0.01659
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) rs115169993 0.00292
NM_006182.4(DDR2):c.187C>G (p.Leu63Val) rs144594252 0.00006
NM_000455.5(STK11):c.368A>G (p.Gln123Arg) rs764449808 0.00004
NM_000455.5(STK11):c.1060T>C (p.Phe354Leu) rs1057520018 0.00003
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.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 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.841G>A (p.Asp281Asn) rs764146326 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.5(CDKN2A):c.150G>T (p.Gln50His) rs1057519882
NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000077.5(CDKN2A):c.340C>A (p.Pro114Thr) rs104894104
NM_000077.5(CDKN2A):c.341C>A (p.Pro114His) rs121913386
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000314.8(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000455.5(STK11):c.256C>G (p.Arg86Gly) rs1057520039
NM_000455.5(STK11):c.487G>T (p.Gly163Cys) rs730881972
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.421T>A (p.Cys141Ser) rs1057519978
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.421T>G (p.Cys141Gly) rs1057519978
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422G>T (p.Cys141Phe) rs587781288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
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.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.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.658T>A (p.Tyr220Asn) rs530941076
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) rs121912666
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.706T>A (p.Tyr236Asn) rs587782289
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
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.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.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.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.841G>C (p.Asp281His) rs764146326
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.843C>G (p.Asp281Glu) rs1057519984
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_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.1435C>G (p.Arg479Gly) rs747241612
NM_001349798.2(FBXW7):c.1436G>A (p.Arg479Gln) rs866987936
NM_001349798.2(FBXW7):c.1436G>C (p.Arg479Pro) rs866987936
NM_001349798.2(FBXW7):c.1436G>T (p.Arg479Leu) rs866987936
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_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
NM_002721.5(PPP6C):c.790C>T (p.Arg264Cys) rs763733111
NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_004048.4(B2M):c.1A>G (p.Met1Val) rs1023835002
NM_004048.4(B2M):c.1A>T (p.Met1Leu) rs1023835002
NM_004048.4(B2M):c.2T>C (p.Met1Thr) rs1057519879
NM_004048.4(B2M):c.2T>G (p.Met1Arg) rs1057519879
NM_004048.4(B2M):c.3G>A (p.Met1Ile) rs1057519877
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu) rs121913351
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala) rs121913351
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
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_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly) rs398124146
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys) rs398124146
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His) rs1057519884
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu) rs1057519884
NM_004431.5(EPHA2):c.1171G>C (p.Gly391Arg) rs34192549
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_005120.3(MED12):c.3670C>G (p.Leu1224Val) rs1057519912
NM_005120.3(MED12):c.3670C>T (p.Leu1224Phe) rs1057519912
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp) rs121913428
NM_005228.5(EGFR):c.2240T>C (p.Leu747Ser) rs397517097
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) rs121913444
NM_005228.5(EGFR):c.2582T>C (p.Leu861Pro) rs121913444
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) rs121913444
NM_005343.4(HRAS):c.181C>G (p.Gln61Glu) rs28933406
NM_005343.4(HRAS):c.182A>C (p.Gln61Pro) rs121913233
NM_005343.4(HRAS):c.182A>T (p.Gln61Leu) rs121913233
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) rs104894228
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys) rs1057519922
NM_006164.5(NFE2L2):c.235G>C (p.Glu79Gln) rs1057519922
NM_006164.5(NFE2L2):c.236A>T (p.Glu79Val) rs1057519923
NM_006164.5(NFE2L2):c.237G>T (p.Glu79Asp) rs1057519924
NM_006164.5(NFE2L2):c.85G>A (p.Asp29Asn) rs1057519920
NM_006164.5(NFE2L2):c.85G>C (p.Asp29His) rs1057519920
NM_006164.5(NFE2L2):c.85G>T (p.Asp29Tyr) rs1057519920
NM_006164.5(NFE2L2):c.86A>G (p.Asp29Gly) rs1057519921
NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe) rs1057519789
NM_006182.4(DDR2):c.2321G>T (p.Gly774Val) rs1057519790
NM_006182.4(DDR2):c.716T>G (p.Leu239Arg) rs578015216
NM_006182.4(DDR2):c.757G>T (p.Gly253Cys) rs376303676
NM_006218.4(PIK3CA):c.112C>A (p.Arg38Ser) rs749415085
NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly) rs749415085
NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys) rs749415085
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His) rs772110575
NM_006218.4(PIK3CA):c.113G>T (p.Arg38Leu) rs772110575
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1258T>G (p.Cys420Gly) rs121913272
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln) rs1057519925
NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp) rs1057519926
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.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala) rs1057519928
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_006218.4(PIK3CA):c.316G>C (p.Gly106Arg) rs1057519931
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_022970.4(FGFR2):c.959C>G (p.Ser320Cys) rs1057519791

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