ClinVar Miner

List of variants studied for Auditory neuropathy-optic atrophy syndrome by Baylor Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)	rs760345680	0.00002
NM_024417.5(FDXR):c.472G>A (p.Val158Met)	rs1441084539	0.00001
NM_024417.5(FDXR):c.619A>T (p.Ile207Phe)	rs1598518754
NM_024417.5(FDXR):c.682C>T (p.Arg228Trp)

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