ClinVar Miner

List of variants in gene FDXR reported as uncertain significance for Auditory neuropathy-optic atrophy syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys) rs143458938 0.00053
NM_024417.5(FDXR):c.980G>A (p.Arg327His) rs752410856 0.00003
NM_024417.5(FDXR):c.926G>A (p.Arg309Gln) rs948669536 0.00001
NM_024417.5(FDXR):c.1454T>C (p.Met485Thr) rs2144639559
NM_024417.5(FDXR):c.623C>T (p.Thr208Met)
NM_024417.5(FDXR):c.682C>T (p.Arg228Trp)

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