ClinVar Miner

List of variants studied for Hepatocellular carcinoma

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ClinVar version:
Total variants: 275
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HGVS dbSNP
NM_000038.6(APC):c.1695del (p.Val566fs) rs397514032
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046
NM_000077.4(CDKN2A):c.247C>G (p.His83Asp) rs121913385
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.4(CDKN2A):c.248A>G (p.His83Arg) rs1057519881
NM_000077.4(CDKN2A):c.249C>G (p.His83Gln) rs34968276
NM_000876.3(IGF2R):c.4346G>T (p.Gly1449Val) rs121434587
NM_000876.3(IGF2R):c.4391G>A (p.Gly1464Glu) rs121434588
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001077488.4(GNAS):c.605G>A (p.Arg202His) rs121913495
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu) rs121913495
NM_001079846.1(CREBBP):c.4222C>G (p.Arg1408Gly) rs398124146
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001079846.1(CREBBP):c.4223G>A (p.Arg1408His) rs1057519884
NM_001079846.1(CREBBP):c.4223G>T (p.Arg1408Leu) rs1057519884
NM_001122821.2(SET):c.740A>G (p.Glu247Gly) rs768759521
NM_001126112.2(TP53):c.332T>A (p.Leu111Gln) rs1057519997
NM_001126112.2(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_001126112.2(TP53):c.332T>G (p.Leu111Arg) rs1057519997
NM_001126112.2(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_001126112.2(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_001126112.2(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_001126112.2(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_001126112.2(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_001126112.2(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_001126112.2(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_001126112.2(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_001126112.2(TP53):c.432G>T (p.Gln144His) rs786201419
NM_001126112.2(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_001126112.2(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_001126112.2(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_001126112.2(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_001126112.2(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_001126112.2(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_001126112.2(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_001126112.2(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_001126112.2(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_001126112.2(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_001126112.2(TP53):c.517G>A (p.Val173Met) rs876660754
NM_001126112.2(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_001126112.2(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_001126112.2(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_001126112.2(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_001126112.2(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_001126112.2(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_001126112.2(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_001126112.2(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_001126112.2(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_001126112.2(TP53):c.535C>A (p.His179Asn) rs587780070
NM_001126112.2(TP53):c.535C>G (p.His179Asp) rs587780070
NM_001126112.2(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_001126112.2(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_001126112.2(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_001126112.2(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_001126112.2(TP53):c.537T>G (p.His179Gln) rs876660821
NM_001126112.2(TP53):c.577C>A (p.His193Asn) rs876658468
NM_001126112.2(TP53):c.577C>G (p.His193Asp) rs876658468
NM_001126112.2(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_001126112.2(TP53):c.578A>C (p.His193Pro) rs786201838
NM_001126112.2(TP53):c.578A>G (p.His193Arg) rs786201838
NM_001126112.2(TP53):c.578A>T (p.His193Leu) rs786201838
NM_001126112.2(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_001126112.2(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_001126112.2(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_001126112.2(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_001126112.2(TP53):c.583A>T (p.Ile195Phe) rs942158624
NM_001126112.2(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_001126112.2(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_001126112.2(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_001126112.2(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_001126112.2(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_001126112.2(TP53):c.614A>C (p.Tyr205Ser) rs1057520007
NM_001126112.2(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_001126112.2(TP53):c.614A>T (p.Tyr205Phe) rs1057520007
NM_001126112.2(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_001126112.2(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_001126112.2(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_001126112.2(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_001126112.2(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_001126112.2(TP53):c.641A>T (p.His214Leu) rs1057519992
NM_001126112.2(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_001126112.2(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_001126112.2(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_001126112.2(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_001126112.2(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_001126112.2(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_001126112.2(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_001126112.2(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_001126112.2(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_001126112.2(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_001126112.2(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_001126112.2(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_001126112.2(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_001126112.2(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_001126112.2(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_001126112.2(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_001126112.2(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_001126112.2(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_001126112.2(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_001126112.2(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_001126112.2(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_001126112.2(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_001126112.2(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_001126112.2(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_001126112.2(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_001126112.2(TP53):c.726C>G (p.Cys242Trp) rs375874539
NM_001126112.2(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_001126112.2(TP53):c.730G>C (p.Gly244Arg) rs1057519989
NM_001126112.2(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_001126112.2(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_001126112.2(TP53):c.731G>T (p.Gly244Val) rs985033810
NM_001126112.2(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_001126112.2(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_001126112.2(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_001126112.2(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_001126112.2(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_001126112.2(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_001126112.2(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_001126112.2(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_001126112.2(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_001126112.2(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_001126112.2(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_001126112.2(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_001126112.2(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_001126112.2(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_001126112.2(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_001126112.2(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_001126112.2(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_001126112.2(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_001126112.2(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_001126112.2(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_001126112.2(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_001126112.2(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001126112.2(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_001126112.2(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_001126112.2(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_001126112.2(TP53):c.820G>T (p.Val274Phe) rs1057520005
NM_001126112.2(TP53):c.821T>A (p.Val274Asp) rs1057520006
NM_001126112.2(TP53):c.821T>C (p.Val274Ala) rs1057520006
NM_001126112.2(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_001126112.2(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_001126112.2(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_001126112.2(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_001126112.2(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_001126112.2(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_001126112.2(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_001126112.2(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_001126112.2(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_001126112.2(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_001126112.2(TP53):c.841G>C (p.Asp281His) rs764146326
NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_001126112.2(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_001126112.2(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_001126112.2(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_001126112.2(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_001126112.2(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_001126112.2(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_001126112.2(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_001126112.2(TP53):c.857A>C (p.Glu286Ala) rs1057519985
NM_001126112.2(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001126112.2(TP53):c.857A>T (p.Glu286Val) rs1057519985
NM_001193376.2(TERT):c.2004G>C (p.Glu668Asp) rs1554040964
NM_001193376.2(TERT):c.200C>T (p.Ala67Val) rs1554043124
NM_001193376.2(TERT):c.578C>T (p.Pro193Leu) rs751762765
NM_001193376.2(TERT):c.887A>C (p.His296Pro) rs778187343
NM_001228.4(CASP8):c.1277_1278GT[1] (p.Val427fs) rs587776665
NM_001282386.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282386.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282386.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282386.1(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_001289910.1(IDH2):c.358A>G (p.Arg120Gly) rs1057519906
NM_001289910.1(IDH2):c.358A>T (p.Arg120Trp) rs1057519906
NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys) rs121913503
NM_001289910.1(IDH2):c.359G>T (p.Arg120Met) rs121913503
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala) rs28931589
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)
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.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn) rs121913413
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys) rs121913409
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.4(CTNNB1):c.1494dup (p.His499fs) rs1553631896
NM_001904.4(CTNNB1):c.1530dup (p.Val511fs)
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn) rs28931588
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His) rs28931588
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala) rs121913396
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val) rs121913396
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_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter) rs778624338
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002957.6(RXRA):c.1280C>A (p.Ser427Tyr) rs1057519958
NM_002957.6(RXRA):c.1280C>T (p.Ser427Phe) rs1057519958
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs) rs587776627
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
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.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_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>C (p.Gly13Ala) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005444.3(CNOT9):c.259T>C (p.Ser87Pro) rs1057519956
NM_005444.3(CNOT9):c.260C>G (p.Ser87Cys) rs1057519957
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_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.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.3203dup (p.Asn1068fs) rs587776802
NM_006842.3(SF3B2):c.1997A>C (p.His666Pro) rs1057519959
NM_012433.3(SF3B1):c.1996A>C (p.Lys666Gln) rs754688962
NM_012433.3(SF3B1):c.1996A>G (p.Lys666Glu) rs754688962
NM_015850.4(FGFR1):c.1962G>C (p.Lys654Asn) rs1057519897
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_033360.4(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_198253.2(TERT):c.337dup (p.Glu113fs) rs1554043088
PDGRL, 2-BP DEL

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