ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) rs146113610 0.00004
NM_006424.3(SLC34A2):c.113-2A>G rs1714268814 0.00001
NM_000248.4(MITF):c.1A>G (p.Met1Val) rs760273611
NM_001048174.2(MUTYH):c.1149del (p.Ser384fs) rs2149120608
NM_004985.5(KRAS):c.461A>G (p.Asp154Gly) rs2141481712
NM_014567.5(BCAR1):c.12+2T>C rs1597262107

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