List of variants in gene EPS8 reported as pathogenic for perceptual disorders

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_004447.6(EPS8):c.1048C>T (p.Gln350Ter)
NM_004447.6(EPS8):c.1424T>G (p.Leu475Ter)	rs2135785787
NM_004447.6(EPS8):c.517-1G>T
NM_004447.6(EPS8):c.811-1G>A
NM_004447.6(EPS8):c.88C>T (p.Gln30Ter)	rs587777691

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