ClinVar Miner

List of variants in gene TJP2 reported as pathogenic for autosomal dominant nonsyndromic hearing loss 51

Included ClinVar conditions (1):

Autosomal dominant nonsyndromic hearing loss 51

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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
9q21.11 duplication
NC_000009.11:g.71705804_71974823invdup
NM_004817.4(TJP2):c.2624T>C (p.Ile875Thr)

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