List of variants in gene GJB3 reported as likely benign for diffuse palmoplantar keratoderma

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_024009.3(GJB3):c.*231G>A	rs72898302	0.01235
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp)	rs80297119	0.00582
NM_024009.3(GJB3):c.579C>T (p.Gly193=)	rs61744512	0.00526
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr)	rs117385606	0.00039
NM_024009.3(GJB3):c.223C>T (p.Arg75Cys)	rs370476720	0.00034
NM_024009.3(GJB3):c.264G>A (p.Ser88=)	rs201469743	0.00026
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys)	rs74315318	0.00019
NM_024009.3(GJB3):c.250G>A (p.Val84Ile)	rs145751680	0.00013
NM_024009.3(GJB3):c.293G>A (p.Arg98His)	rs201314683	0.00006
NM_024009.3(GJB3):c.-18C>T	rs371413520	0.00004
NM_024009.3(GJB3):c.660G>A (p.Lys220=)	rs777765331	0.00004
NM_024009.3(GJB3):c.165C>T (p.Thr55=)	rs779347602	0.00001
NM_024009.3(GJB3):c.317G>A (p.Arg106His)	rs369979083	0.00001

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