List of variants in gene GJB6 reported as likely benign for autosomal recessive disease

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)	rs35277762	0.00237
NM_001110219.3(GJB6):c.405G>A (p.Thr135=)	rs145438428	0.00056
NM_001110219.3(GJB6):c.6T>C (p.Asp2=)	rs200415730	0.00044
NM_001110219.3(GJB6):c.60C>T (p.Ile20=)	rs778513540	0.00032
NM_001110219.3(GJB6):c.177A>G (p.Gly59=)	rs371123633	0.00031
NM_001110219.3(GJB6):c.480G>A (p.Gly160=)	rs145762940	0.00021
NM_001110219.3(GJB6):c.672A>G (p.Arg224=)	rs756597598	0.00008
NM_001110219.3(GJB6):c.30C>T (p.Ile10=)	rs377181573	0.00007
NM_001110219.3(GJB6):c.226C>T (p.Leu76=)	rs180764573	0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=)	rs189971962	0.00004
NM_001110219.3(GJB6):c.594G>A (p.Ala198=)	rs763870146	0.00004
NM_001110219.3(GJB6):c.300C>T (p.His100=)	rs757592980	0.00001
NM_001110219.3(GJB6):c.129G>A (p.Val43=)
NM_001110219.3(GJB6):c.138C>T (p.Asp46=)
NM_001110219.3(GJB6):c.153C>T (p.Phe51=)
NM_001110219.3(GJB6):c.16C>T (p.Leu6=)
NM_001110219.3(GJB6):c.306C>G (p.Thr102=)
NM_001110219.3(GJB6):c.357G>A (p.Glu119=)
NM_001110219.3(GJB6):c.723G>A (p.Gln241=)	rs556168075

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