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: 17

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.-6T>A	rs148136545	0.00355
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)	rs34988750	0.00107
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)	rs150529554	0.00016
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508	0.00004
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)	rs143343083	0.00003
NM_004004.6(GJB2):c.265C>T (p.Leu89Phe)	rs765921870	0.00002
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	rs28931593	0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs)	rs730880338	0.00001
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.3G>A (p.Met1Ile)
NM_004004.6(GJB2):c.449del (p.Phe150fs)
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg)	rs760489970
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)	rs1057517519
NM_004004.6(GJB2):c.95G>A (p.Arg32His)	rs111033190
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	rs111033190

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