ClinVar Miner

List of variants in gene GJB2 reported as pathogenic by Institute of Human Genetics, University Hospital Muenster

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_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs)	rs80338942	0.00058

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