ClinVar Miner

List of variants reported as likely pathogenic for Astrocytoma by Database of Curated Mutations (DoCM)

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005896.4(IDH1):c.395G>A (p.Arg132His) rs121913500 0.00001
NM_002107.7(H3-3A):c.83A>T (p.Lys28Met) rs1057519903
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_023110.3(FGFR1):c.1543A>G (p.Met515Val) rs1057519899
NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp) rs1057519898
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn) rs1057519897

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