List of variants reported as pathogenic for Auditory neuropathy-optic atrophy syndrome by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys)	rs752143061	0.00004
NM_024417.5(FDXR):c.1255C>T (p.Gln419Ter)	rs1313895172
NM_024417.5(FDXR):c.1429G>A (p.Glu477Lys)	rs997026784
NM_024417.5(FDXR):c.643C>G (p.Leu215Val)	rs1555620021

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