ClinVar Miner

List of variants in gene OTOF reported as pathogenic for Auditory neuropathy, autosomal recessive, 1

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Gene type:
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Total variants: 6
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NM_194248.3(OTOF):c.*164C>G rs121908598
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr) rs80356586
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro) rs80356596
NM_194248.3(OTOF):c.4960+1G>C rs80356602
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605
OTOF, 1-BP DEL, 1778G

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