ClinVar Miner

List of variants in gene PCDH15 reported as pathogenic by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)	rs1057516342	0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)	rs137853001	0.00001

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