ClinVar Miner

List of variants reported as pathogenic for carcinoma of gallbladder and extrahepatic biliary tract

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
FGFR2-CLIP1 fusion
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
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

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