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

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Total variants: 11

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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.1156C>T (p.Arg386Trp)	rs760345680	0.00002
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)	rs746953590	0.00002
NM_024417.5(FDXR):c.1343G>A (p.Arg448Gln)	rs1017904946	0.00001
NM_024417.5(FDXR):c.472G>A (p.Val158Met)	rs1441084539	0.00001
NM_024417.5(FDXR):c.1309G>A (p.Gly437Ser)	rs766147142
NM_024417.5(FDXR):c.1A>G (p.Met1Val)	rs1323016653
NM_024417.5(FDXR):c.325G>A (p.Gly109Ser)	rs770691402
NM_024417.5(FDXR):c.368del (p.Gln123fs)	rs2144662023
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)	rs752675360
NM_024417.5(FDXR):c.619A>T (p.Ile207Phe)	rs1598518754

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