List of variants in gene EYS reported as uncertain significance by Department of Pathology and Laboratory Medicine, Sinai Health System

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.788A>G (p.His263Arg)	rs139517572	0.00213
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly)	rs188093810	0.00124
NM_001142800.2(EYS):c.1082T>C (p.Ile361Thr)	rs201059400	0.00030
NM_001142800.2(EYS):c.8072-15237G>C	rs556660906	0.00021
NM_001142800.2(EYS):c.5470A>C (p.Met1824Leu)	rs1220126892	0.00012
NM_001142800.2(EYS):c.583A>C (p.Ser195Arg)	rs753945993	0.00001
NM_001142800.2(EYS):c.3075T>G (p.His1025Gln)	rs2150022749
NM_001142800.2(EYS):c.7748G>C (p.Arg2583Pro)	rs564020009

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