List of variants in gene GJB2 reported as likely pathogenic by Invitae

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: 5

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HGVS	dbSNP
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)	rs371086981
NM_004004.6(GJB2):c.40A>G (p.Asn14Asp)
NM_004004.6(GJB2):c.517C>T (p.Pro173Ser)
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)	rs80338941
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	rs771748289

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