ClinVar Miner

List of variants in gene OTOGL reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 84B

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_001378609.3(OTOGL):c.1457del (p.Val486fs) rs1233562246 0.00003
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter) rs572666403 0.00003
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter) rs768620276 0.00003
NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter) rs397514588 0.00003
NM_001378609.3(OTOGL):c.2391-2A>G rs374272301 0.00001
NM_001378609.3(OTOGL):c.5265+5G>A rs902734999 0.00001
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val) rs1277996676
NM_001378609.3(OTOGL):c.3081dup (p.Leu1028fs) rs764178233
NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter) rs2138034575
NM_001378609.3(OTOGL):c.6122-1G>A rs952235302
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378609.3(OTOGL):c.6355C>T (p.Gln2119Ter) rs1343148883

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