ClinVar Miner

List of variants reported as likely pathogenic for Auditory neuropathy-optic atrophy syndrome by 3billion

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu)	rs746953590	0.00002
NM_024417.5(FDXR):c.173dup (p.His60fs)
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp)	rs752675360

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