ClinVar Miner

List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 84B by 3billion

Included ClinVar conditions (1):

Autosomal recessive nonsyndromic hearing loss 84B

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter)	rs572666403	0.00003
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)	rs754134498
NM_001378609.3(OTOGL):c.6355C>T (p.Gln2119Ter)	rs1343148883

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