ClinVar Miner

List of variants reported by Cancer Molecular Diagnostics Core, Tianjin Medical University Cancer Institute and Hospital

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.112G>A (p.Glu38Lys) rs1555280344
NM_000059.4(BRCA2):c.266C>A (p.Pro89Gln) rs748609599
NM_000059.4(BRCA2):c.2719A>G (p.Lys907Glu) rs876659600
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_000059.4(BRCA2):c.4025G>A (p.Ser1342Asn) rs1270552356
NM_000059.4(BRCA2):c.6149dup (p.Asn2051fs) rs1555284566
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) rs80359062
NM_000059.4(BRCA2):c.8465_8472del (p.Ile2822fs) rs1555287661
NM_000059.4(BRCA2):c.8477A>T (p.Tyr2826Phe) rs1555287666
NM_000059.4(BRCA2):c.8713dup (p.Tyr2905fs) rs1555288169
NM_000314.8(PTEN):c.1054GAG[1] (p.Glu353del) rs878853931
NM_000455.5(STK11):c.428T>C (p.Val143Ala) rs1380135986
NM_007294.4(BRCA1):c.1324T>A (p.Cys442Ser) rs876660734
NM_007294.4(BRCA1):c.1442dup (p.Ile482fs) rs1555591746
NM_007294.4(BRCA1):c.272G>A (p.Cys91Tyr) rs1333635543
NM_007294.4(BRCA1):c.3356C>G (p.Thr1119Ser) rs863224759
NM_007294.4(BRCA1):c.4579_4580delinsAT (p.Glu1527Met) rs1555581922

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