ClinVar Miner

List of variants reported as pathogenic by Molecular Oncology Research Center, Barretos Cancer Hospital

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.454A>G (p.Met152Val) rs766905791 0.00001
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_001282597.3(CTNNA2):c.103-1G>A rs2104990962
NM_001354930.2(RIPK1):c.1802_1805del (p.Cys601fs) rs2113726155
NM_001382508.1(DROSHA):c.1498G>T (p.Glu500Ter) rs2150052710
NM_001903.5(CTNNA1):c.1206_1207insCC (p.Val403fs) rs2150032416
NM_002298.5(LCP1):c.1122C>A (p.Tyr374Ter) rs1376923782
NM_006622.4(PLK2):c.1004dup (p.Leu335fs) rs772701630
NM_014685.4(HERPUD1):c.584_585del (p.Phe195fs) rs2144823719
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs) rs1555602141

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