List of variants in gene EYS reported as pathogenic by Mendelics

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.5928-2A>G	rs181169439	0.00008
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)	rs778030177	0.00005
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter)	rs928803207	0.00003
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)	rs1305702728	0.00001
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)	rs137853189	0.00001
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)	rs1582176424
NM_001142800.2(EYS):c.2055_2056del (p.Ala686fs)	rs1583442540
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)	rs1391928253
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs)	rs1583277585
NM_001142800.2(EYS):c.2981del (p.Pro994fs)	rs1583260302
NM_001142800.2(EYS):c.4073del (p.Pro1358fs)	rs2149832474
NM_001142800.2(EYS):c.4977_4978del (p.Cys1660fs)	rs2149831647
NM_001142800.2(EYS):c.5182del (p.Ser1728fs)	rs1562079278
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)	rs983691310
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter)	rs902462590

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