ClinVar Miner

List of variants studied for Cholangiocarcinoma

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Total variants: 12
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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
FGFR2-CLIP1 fusion
NC_000004.12:g.73740307A>T
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_003376.6(VEGFA):c.*237C>T
NR_125801.1(PACERR):n.536C>G

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