List of variants in gene EYA4 reported as pathogenic for nonsyndromic genetic hearing loss

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_004100.5(EYA4):c.1026_1027dup (p.Thr343fs)	rs2128707546
NM_004100.5(EYA4):c.1048_1049dup (p.Arg352fs)	rs2128707619
NM_004100.5(EYA4):c.1154C>A (p.Ser385Ter)	rs2128711268
NM_004100.5(EYA4):c.441del (p.Tyr148fs)	rs878853223
NM_004100.5(EYA4):c.580+2T>C	rs2128658900
NM_004100.5(EYA4):c.804+2T>A	rs2128665071
NM_004100.5(EYA4):c.804+2del	rs2128665075
NM_004100.5(EYA4):c.964C>T (p.Gln322Ter)	rs2128674939
NM_004100.5(EYA4):c.992dup (p.Ser331fs)

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