ClinVar Miner

List of variants reported as likely pathogenic for Deafness, autosomal recessive 9

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Total variants: 10
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NM_194248.2(OTOF):c.4227+1G>T rs397515601
NM_194248.2(OTOF):c.5193-1G>A rs111033373
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.3409-2A>C rs201613240
NM_194248.3(OTOF):c.4490_4491del (p.Tyr1497fs) rs1558472243
NM_194248.3(OTOF):c.5179del (p.Arg1727fs)
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His) rs111033349
NM_194248.3(OTOF):c.897+1G>T rs483353049

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