ClinVar Miner

List of variants in gene OTOGL reported as likely 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.6019+5G>A rs368712763 0.00046
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001378609.3(OTOGL):c.3213+1G>A rs370730786 0.00004
NM_001378609.3(OTOGL):c.63del (p.Leu22fs) rs376104832 0.00004
NM_001378609.3(OTOGL):c.1890-1G>T rs777911261 0.00001
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val) rs1277996676
NM_001378609.3(OTOGL):c.4279+1G>A rs2137876491
NM_001378609.3(OTOGL):c.4536_4537del (p.Cys1512fs) rs763898293
NM_001378609.3(OTOGL):c.4600+1G>T
NM_001378609.3(OTOGL):c.5027C>G (p.Ser1676Ter) rs1477766714
NM_001378609.3(OTOGL):c.5211C>A (p.Cys1737Ter) rs2137943672
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378609.3(OTOGL):c.841_842del (p.Met281fs) rs876657658

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