ClinVar Miner

List of variants in gene GJB2 reported as likely pathogenic by Neuberg Centre For Genomic Medicine, NCGM

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.487A>G (p.Met163Val)	rs80338949	0.00009
NM_004004.6(GJB2):c.585G>C (p.Met195Ile)	rs570552952

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