List of variants in gene GJB4 reported as pathogenic for Erythrokeratodermia variabilis et progressiva 2

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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_153212.3(GJB4):c.386G>A (p.Trp129Ter)	rs148182439	0.00006
NM_153212.3(GJB4):c.253A>C (p.Thr85Pro)	rs80358210
NM_153212.3(GJB4):c.35G>A (p.Gly12Asp)	rs80358211
NM_153212.3(GJB4):c.409T>C (p.Phe137Leu)	rs80358207
NM_153212.3(GJB4):c.411C>A (p.Phe137Leu)	rs80358206
NM_153212.3(GJB4):c.566T>A (p.Phe189Tyr)	rs80358213
NM_153212.3(GJB4):c.65G>A (p.Arg22His)	rs80358212

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