List of variants in gene EYS reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.5928-2A>G	rs181169439	0.00008
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)	rs184722374	0.00005
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)	rs398123575	0.00004
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	rs752953889	0.00003
NM_001142800.2(EYS):c.3164+1G>A	rs1029564423	0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)	rs794727631	0.00001
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)	rs794727120
NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter)	rs1554214453
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)	rs1764939836
NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)	rs1582376398
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	rs761238771
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	rs751629543

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