ClinVar Miner

List of variants reported as pathogenic for carcinoma by Liquid Biopsy and Cancer Interception Group, Pfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research

Included ClinVar conditions (269):
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ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NG_008150.2:g.(27473_34849)_(43363_46929)dup
NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter) rs2081575204
NM_000051.4(ATM):c.320dup (p.Cys107fs) rs2078893430
NM_000051.4(ATM):c.6215del (p.Gly2072fs) rs2084775383
NM_000051.4(ATM):c.7751_7754del (p.Thr2584fs) rs2086308364
NM_000321.3(RB1):c.1172C>G (p.Ser391Ter)
NM_000321.3(RB1):c.380+2T>C
NM_000546.6(TP53):c.1051A>T (p.Lys351Ter)
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.622G>T (p.Asp208Tyr) rs1597368376
NM_000546.6(TP53):c.796G>T (p.Gly266Ter) rs1057519990
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001378902.1(ROS1):c.3388G>A (p.Gly1130Arg)
NM_004465.2(FGF10):c.*1093A>G
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) rs121913421
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_007294.4(BRCA1):c.4406dup (p.Glu1470fs) rs2052734372
NM_014883.4(FAM13A):c.2465C>T (p.Pro822Leu)

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