List of variants in gene EYS reported as pathogenic by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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.6714del (p.Ile2239fs)	rs752953889	0.00003
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
NM_001142800.1(EYS):c.6079_6191del
NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001142800.2(EYS):c.232del (p.Cys78fs)	rs1468020897
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	rs761238771
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)	rs886044304
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs)	rs1582221424

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