ClinVar Miner

List of variants reported as uncertain significance for biliary tract neoplasm

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg) rs749291211 0.00017
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046 0.00006
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
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.742C>T (p.Arg248Trp) rs121912651
NM_004333.6(BRAF):c.1759G>A (p.Asp587Asn) rs2128998452

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