List of variants in gene GJB1 reported as uncertain significance by GeneDx

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.14G>T (p.Gly5Val)	rs1064793139	0.00001
NM_000166.6(GJB1):c.320G>A (p.Arg107Gln)	rs1383588318	0.00001
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)	rs144381053	0.00001
NM_000166.6(GJB1):c.376C>T (p.His126Tyr)	rs879253995
NM_000166.6(GJB1):c.448A>G (p.Met150Val)	rs2147946197
NM_000166.6(GJB1):c.493C>G (p.Leu165Val)	rs2147946331
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly)	rs104894814
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln)	rs1057524799
NM_000166.6(GJB1):c.728A>G (p.Tyr243Cys)	rs2147947218
NM_001097642.3(GJB1):c.-16-523_-16-519delinsCAAGT	rs1131691690
NM_001097642.3(GJB1):c.-16-524C>G	rs1060501001

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