List of variants in gene GJB2 reported by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP
NM_004004.6(GJB2):c.-6T>A	rs148136545
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)	rs28931594
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg)	rs1291519904
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)	rs765921870
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	rs143343083
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	rs150529554
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg)
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	rs1057517519
NM_004004.6(GJB2):c.95G>A (p.Arg32His)	rs111033190

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