ClinVar Miner

List of variants reported as likely pathogenic for Uterine cervical neoplasms

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Total variants: 132
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HGVS dbSNP
NM_000314.7(PTEN):c.388C>G (p.Arg130Gly) rs121909224
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.7(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000546.5(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.5(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.5(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.5(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.5(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.5(TP53):c.712T>G (p.Cys238Gly) rs1057519981
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.5(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.839G>T (p.Arg280Ile) rs121912660
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_001313903.1(NFE2L2):c.93+142G>C rs1057519922
NM_001313903.1(NFE2L2):c.93+143A>T rs1057519923
NM_001313903.1(NFE2L2):c.93+144G>T rs1057519924
NM_001313904.1(NFE2L2):c.-144A>G rs1057519921
NM_001313904.1(NFE2L2):c.-145G>A rs1057519920
NM_001313904.1(NFE2L2):c.-145G>C rs1057519920
NM_001313904.1(NFE2L2):c.-145G>T rs1057519920
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn) rs1057519889
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr) rs1057519889
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.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_001982.3(ERBB3):c.310G>A (p.Val104Met) rs1057519893
NM_001982.3(ERBB3):c.310G>T (p.Val104Leu) rs1057519893
NM_002745.4(MAPK1):c.964G>A (p.Glu322Lys) rs1057519911
NM_004448.3(ERBB2):c.2305G>A (p.Asp769Asn) rs121913468
NM_004448.3(ERBB2):c.2305G>C (p.Asp769His) rs121913468
NM_004448.3(ERBB2):c.2305G>T (p.Asp769Tyr) rs121913468
NM_004448.3(ERBB2):c.929C>A (p.Ser310Tyr) rs1057519816
NM_004448.3(ERBB2):c.929C>T (p.Ser310Phe) rs1057519816
NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr) rs1057519917
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
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_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.436G>C (p.Ala146Pro) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1082G>C (p.Arg361Pro) rs377767347
NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys) rs1057519922
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala) rs1057519941
NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly) rs1057519941
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.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.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.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His) rs1057519940
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.241G>A (p.Glu81Lys) rs1057519929
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.331A>G (p.Lys111Glu) rs1057519933
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg) rs1057519935
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn) rs1057519934
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006758.2(U2AF1):c.101C>A (p.Ser34Tyr) rs371769427
NM_006758.2(U2AF1):c.101C>T (p.Ser34Phe) rs371769427
NM_018315.5(FBXW7):c.1153C>G (p.Arg385Gly) rs867384286
NM_018315.5(FBXW7):c.1153C>T (p.Arg385Cys) rs867384286
NM_018315.5(FBXW7):c.1154G>A (p.Arg385His) rs1057519895
NM_018315.5(FBXW7):c.1154G>C (p.Arg385Pro) rs1057519895
NM_018315.5(FBXW7):c.1154G>T (p.Arg385Leu) rs1057519895
NM_018315.5(FBXW7):c.1195C>G (p.Arg399Gly) rs747241612
NM_018315.5(FBXW7):c.1196G>A (p.Arg399Gln) rs866987936
NM_018315.5(FBXW7):c.1196G>C (p.Arg399Pro) rs866987936
NM_018315.5(FBXW7):c.1196G>T (p.Arg399Leu) rs866987936
NM_018315.5(FBXW7):c.1273C>A (p.Arg425Ser) rs149680468
NM_018315.5(FBXW7):c.1273C>G (p.Arg425Gly) rs149680468
NM_018315.5(FBXW7):c.1273C>T (p.Arg425Cys) rs149680468
NM_018315.5(FBXW7):c.1274G>A (p.Arg425His) rs1057519896
NM_018315.5(FBXW7):c.1274G>T (p.Arg425Leu) rs1057519896
NM_018315.5(FBXW7):c.1733G>A (p.Arg578Gln) rs759610249

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