List of variants in gene GJB2 reported as pathogenic for Palmoplantar keratoderma-deafness syndrome

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)	rs28931593	0.00001
NM_004004.6(GJB2):c.175G>C (p.Gly59Arg)	rs104894410
NM_004004.6(GJB2):c.176G>C (p.Gly59Ala)	rs104894404
NM_004004.6(GJB2):c.218A>G (p.His73Arg)	rs121912968
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)	rs104894402
NM_004004.6(GJB2):c.66G>T (p.Lys22Asn)	rs879253741

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