List of variants in gene GJB2 reported as pathogenic by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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: 14

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HGVS	dbSNP
NM_004004.6(GJB2):c.-22-2A>C	rs201895089
NM_004004.6(GJB2):c.-23+1G>A	rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	rs104894398
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945
NM_004004.6(GJB2):c.269dup (p.Val91fs)	rs730880338
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	rs786204491
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs)	rs80338939
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	rs111033217

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