ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 18B by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001292063.2(OTOG):c.6523C>T (p.Arg2175Ter) rs397514608 0.00001
NM_001292063.2(OTOG):c.5472del (p.Ala1826fs) rs1029389440
NM_001292063.2(OTOG):c.6311C>T (p.Pro2104Leu) rs397514607

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