ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 9 by WangQJ Lab, Chinese People's Liberation Army General Hospital

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_194248.3(OTOF):c.1804-2A>G rs2148056311
NM_194248.3(OTOF):c.2406+2dup rs2148051770
NM_194248.3(OTOF):c.2610_2615dup (p.Leu870_Leu871dup) rs2148050495
NM_194248.3(OTOF):c.2676G>A (p.Lys892=) rs2148050346
NM_194248.3(OTOF):c.2867-5_2881del rs1240121049
NM_194248.3(OTOF):c.2985C>A (p.Cys995Ter) rs2148047301
NM_194248.3(OTOF):c.3260A>T (p.Asp1087Val) rs2148044809
NM_194248.3(OTOF):c.5104-1G>T rs2148023761
NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu) rs529721333
NM_194248.3(OTOF):c.5109_5110insTTC (p.Arg1703_Leu1704insPhe) rs2148023735
NM_194248.3(OTOF):c.669del (p.Ala224fs) rs2148078546

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