ClinVar Miner

List of variants reported as likely pathogenic for Papillary renal cell carcinoma, sporadic by Database of Curated Mutations (DoCM)

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Total variants: 52
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HGVS dbSNP
NM_000077.4(CDKN2A):c.239G>A (p.Arg80Gln) rs1057519883
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000546.5(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.5(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>C (p.His193Pro) rs786201838
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.5(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.5(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.721T>C (p.Ser241Pro) rs1057520002
NM_000546.5(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.5(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
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_001374258.1(BRAF):c.1862A>G (p.Asn621Ser) rs121913370
NM_001374258.1(BRAF):c.1919T>A (p.Val640Glu) rs113488022
NM_001654.5(ARAF):c.640T>G (p.Ser214Ala) rs1057519876
NM_001654.5(ARAF):c.641C>G (p.Ser214Cys) rs1057519786
NM_001654.5(ARAF):c.641C>T (p.Ser214Phe) rs1057519786
NM_004333.6(BRAF):c.1741A>C (p.Asn581His) rs180177040
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr) rs121913370
NM_004448.3(ERBB2):c.2263T>A (p.Leu755Met) rs1057519890
NM_004448.3(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
NM_004448.3(ERBB2):c.2264T>C (p.Leu755Ser) rs121913470
NM_004448.3(ERBB2):c.2264T>G (p.Leu755Trp) rs121913470
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_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_005614.4(RHEB):c.103T>A (p.Tyr35Asn) rs1057519949
NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys) rs1057519950
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

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