List of variants in gene combination EYS, PHF3 reported by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)	rs111991705	0.00667
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)	rs144513453	0.00443
NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu)	rs79036642	0.00008
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	rs137853190	0.00006
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	rs763028732	0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	rs1326370032	0.00003
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)	rs1554163993
NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly)	rs1554163939
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	rs528919874
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)	rs1427770112
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs)	rs1165454778
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	rs770748359
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)	rs536788112

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.