List of variants in gene EYS reported as pathogenic by Natera, Inc.

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: 39

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	rs143994166	0.00064
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter)	rs201823777	0.00012
NM_001142800.2(EYS):c.5928-2A>G	rs181169439	0.00008
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter)	rs760798455	0.00006
NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)	rs184722374	0.00005
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu)	rs527236068	0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)	rs398123575	0.00004
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter)	rs928803207	0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	rs752953889	0.00003
NM_001142800.2(EYS):c.7228+1G>A	rs758899480	0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter)	rs779983752	0.00003
NM_001142800.2(EYS):c.2259+1G>A	rs752736741	0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)	rs74419361	0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs)	rs779372264	0.00002
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter)	rs1471994744	0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)	rs371032798	0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)	rs878853349	0.00001
NM_001142800.2(EYS):c.2889T>A (p.Cys963Ter)	rs989589885	0.00001
NM_001142800.2(EYS):c.3003T>A (p.Cys1001Ter)	rs1389794536	0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)	rs930421180	0.00001
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)	rs794727631	0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter)	rs797045089	0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)	rs1060499783	0.00001
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter)	rs527236066	0.00001
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter)	rs527236076	0.00001
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)	rs764163418
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)	rs794727120
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)	rs1764939836
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter)	rs2149856749
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	rs761238771
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs)	rs886042613
NM_001142800.2(EYS):c.4955C>A (p.Ser1652Ter)	rs909730457
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs)	rs527236065
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs)	rs1455826633
NM_001142800.2(EYS):c.5834del (p.Lys1945fs)	rs774455587
NM_001142800.2(EYS):c.6794del (p.Pro2265fs)	rs758109813
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	rs751629543
NM_001142800.2(EYS):c.8150del (p.Lys2717fs)	rs1251637752
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)	rs764229134

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