ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 22 by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

Included ClinVar conditions (1):

Autosomal recessive nonsyndromic hearing loss 22

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu)	rs727504599
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val)	rs200689333
NM_144672.4(OTOA):c.1537del (p.Ala513fs)
NM_144672.4(OTOA):c.1765del (p.Gln589fs)	rs775776282
NM_144672.4(OTOA):c.3292C>T (p.Gln1098Ter)

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