List of variants in gene OTOA reported as likely pathogenic for auditory system disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)	rs200988634	0.00927
NM_144672.4(OTOA):c.2120C>T (p.Ala707Val)	rs145160241	0.00038
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp)	rs200656442	0.00001
NC_000016.10:g.21730837_21730930del	rs2141723087
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)	rs727504599
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs)	rs2141700836
NM_144672.4(OTOA):c.1633_1634del (p.Leu545fs)
NM_144672.4(OTOA):c.1881-2A>G	rs2141716542
NM_144672.4(OTOA):c.1912C>T (p.Gln638Ter)	rs1898923522
NM_144672.4(OTOA):c.2295del (p.Thr766fs)	rs774366025
NM_144672.4(OTOA):c.2301+1G>T	rs1567396832
NM_144672.4(OTOA):c.2352del (p.Thr785fs)
NM_144672.4(OTOA):c.2991A>C (p.Glu997Asp)
NM_144672.4(OTOA):c.562_569dup (p.Phe191fs)
NM_144672.4(OTOA):c.828del (p.Ser277fs)	rs751447996
NM_144672.4(OTOA):c.875A>G (p.Lys292Arg)

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