List of variants in gene ESPN reported as pathogenic for auditory system disorder

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_031475.3(ESPN):c.1649_1665del (p.Arg550fs)
NM_031475.3(ESPN):c.1916-1G>C	rs1643944047
NM_031475.3(ESPN):c.1988_1991del (p.Lys663fs)	rs1569726455
NM_031475.3(ESPN):c.2081_2082del (p.Ser694fs)	rs2148538836
NM_031475.3(ESPN):c.2470_2473del (p.Ser824fs)	rs1569770998
NM_031475.3(ESPN):c.2496C>G (p.Tyr832Ter)
NM_031475.3(ESPN):c.2496del (p.Gly831_Tyr832insTer)	rs754472294

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