ClinVar Miner

List of variants studied for Auditory neuropathy-optic atrophy syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys) rs143458938 0.00048
NM_024417.5(FDXR):c.623C>T (p.Thr208Met) rs199826370 0.00003
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002

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