ClinVar Miner

List of variants studied for biliary tract neoplasm

Included ClinVar conditions (6):
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ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.22727026C>G rs1800795 0.70949
NM_153758.5(IL19):c.-149+1984T>G rs1800872 0.69428
NM_001963.6(EGF):c.-382A>G rs4444903 0.50533
NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys) rs2227983 0.22212
NM_000576.3(IL1B):c.315C>T (p.Phe105=) rs1143634 0.19486
NM_000051.4(ATM):c.1176C>G (p.Gly392=) rs1800727 0.00388
NM_001009944.3(PKD1):c.8298C>T (p.Ser2766=) rs145850037 0.00102
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg) rs749291211 0.00017
NM_002691.4(POLD1):c.1017G>T (p.Ser339=) rs373404887 0.00013
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046 0.00006
NM_000455.5(STK11):c.678C>T (p.Asn226=) rs748832988 0.00005
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318 0.00002
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.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_001009944.3(PKD1):c.2173G>A (p.Ala725Thr) rs773053314 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
FGFR2-CLIP1 fusion
NC_000004.12:g.73740307A>T
NM_000038.6(APC):c.4440G>C (p.Gln1480His) rs876659881
NM_000038.6(APC):c.4658C>T (p.Ala1553Val) rs1554086050
NM_000038.6(APC):c.8461G>A (p.Asp2821Asn) rs1554089164
NM_000251.3(MSH2):c.935T>C (p.Leu312Pro) rs2104180665
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.376-2A>G rs786202799
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
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.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.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.6(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000634.3(CXCR1):c.827G>C (p.Ser276Thr)
NM_000963.4(PTGS2):c.*427T>C
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001982.4(ERBB3):c.310G>A (p.Val104Met) rs1057519893
NM_001982.4(ERBB3):c.310G>T (p.Val104Leu) rs1057519893
NM_003376.6(VEGFA):c.*237C>T
NM_004333.6(BRAF):c.1759G>A (p.Asp587Asn) rs2128998452
NM_004333.6(BRAF):c.1779_1780delinsGA (p.Asp594Asn) rs1057519718
NM_004448.4(ERBB2):c.2524G>A (p.Val842Ile) rs1057519738
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
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
NR_125801.1(PACERR):n.536C>G

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