List of variants in gene EYS reported as likely pathogenic by Blueprint 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: 35

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)	rs752683070	0.00007
NM_001142800.2(EYS):c.220del (p.Val74fs)	rs1375767063	0.00004
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter)	rs746499646	0.00004
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)	rs779983752	0.00003
NM_001142800.2(EYS):c.1982T>A (p.Leu661Ter)	rs1295206142	0.00001
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter)	rs1245121527	0.00001
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)	rs1389794536	0.00001
NM_001142800.2(EYS):c.4199C>A (p.Ser1400Ter)	rs1245304444	0.00001
NM_001142800.2(EYS):c.4955C>G (p.Ser1652Ter)	rs909730457	0.00001
NM_001142800.2(EYS):c.7578+1G>A	rs1228475082	0.00001
NM_001142800.2(EYS):c.7899C>A (p.Tyr2633Ter)	rs1197863938	0.00001
NM_001142800.2(EYS):c.1068C>A (p.Cys356Ter)	rs1766556883
NM_001142800.2(EYS):c.1207A>T (p.Lys403Ter)	rs1765728504
NM_001142800.2(EYS):c.1222del (p.Ala408fs)	rs1765727233
NM_001142800.2(EYS):c.1784_1787del (p.Ser595fs)	rs1768657480
NM_001142800.2(EYS):c.1871C>A (p.Ser624Ter)	rs548565748
NM_001142800.2(EYS):c.216del (p.Ala73fs)	rs1459031771
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)	rs794727120
NM_001142800.2(EYS):c.2381+1G>A	rs1769267226
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter)	rs1767699695
NM_001142800.2(EYS):c.3549T>G (p.Tyr1183Ter)	rs1767601715
NM_001142800.2(EYS):c.3568+1G>A	rs1767600988
NM_001142800.2(EYS):c.3581_3582del (p.His1194fs)	rs1767312015
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)	rs750840208
NM_001142800.2(EYS):c.4518del (p.Ile1507fs)	rs1766404452
NM_001142800.2(EYS):c.4993_4994delinsA (p.Cys1665fs)	rs1766383947
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer)	rs1554183440
NM_001142800.2(EYS):c.5847C>A (p.Tyr1949Ter)	rs1774743530
NM_001142800.2(EYS):c.6191+2T>C	rs1769469813
NM_001142800.2(EYS):c.7392dup (p.Thr2465fs)	rs1770904723
NM_001142800.2(EYS):c.749-1G>C	rs368159852
NM_001142800.2(EYS):c.7736_7742del (p.Thr2579fs)	rs1431427428
NM_001142800.2(EYS):c.786dup (p.His263fs)	rs1766009155
NM_001142800.2(EYS):c.803del (p.Gly268fs)	rs1766006937
NM_001142800.2(EYS):c.8233+1G>C	rs1768621810

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