List of variants in gene EFEMP1 reported as likely 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001039348.3(EFEMP1):c.1189T>C (p.Tyr397His)	rs1553348960	0.00001
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp)	rs121434491

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