ClinVar Miner

List of variants in gene FXN reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000144.5(FXN):c.356C>T (p.Thr119Met) rs757847415 0.00002
NM_000144.5(FXN):c.171G>C (p.Ser57=) rs767221228
NM_000144.5(FXN):c.185T>C (p.Leu62Pro)
NM_000144.5(FXN):c.221A>G (p.Tyr74Cys) rs750274023
NM_000144.5(FXN):c.227T>G (p.Met76Arg)
NM_000144.5(FXN):c.290G>A (p.Arg97Lys) rs1378785673
NM_000144.5(FXN):c.323_324delinsTT (p.Glu108Val) rs1587821826
NM_000144.5(FXN):c.427T>C (p.Tyr143His) rs2133127151
NM_000144.5(FXN):c.472T>G (p.Ser158Ala) rs748916855
NM_000144.5(FXN):c.483-7C>T
NM_000144.5(FXN):c.623A>G (p.Lys208Arg)

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