List of variants in gene EYS reported as uncertain significance by Fulgent Genetics, Fulgent 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: 36

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)	rs200935518	0.00083
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe)	rs190009374	0.00075
NM_001142800.2(EYS):c.1748A>C (p.Asp583Ala)	rs113591099	0.00034
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)	rs367857088	0.00024
NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser)	rs557892188	0.00019
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr)	rs146413074	0.00016
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys)	rs768964978	0.00016
NM_001142800.2(EYS):c.2259C>T (p.Leu753=)	rs781359405	0.00008
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp)	rs201331309	0.00007
NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg)	rs751746614	0.00007
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg)	rs371491059	0.00006
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr)	rs372512515	0.00006
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)	rs777735735	0.00005
NM_001142800.2(EYS):c.1462T>G (p.Ser488Ala)	rs754245105	0.00004
NM_001142800.2(EYS):c.1973G>C (p.Ser658Thr)	rs1486743340	0.00004
NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys)	rs369347845	0.00004
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln)	rs528733427	0.00004
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)	rs374714909	0.00004
NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe)	rs985211023	0.00004
NM_001142800.2(EYS):c.8207C>T (p.Ala2736Val)	rs374200609	0.00004
NM_001142800.2(EYS):c.1483G>C (p.Gly495Arg)	rs771221172	0.00003
NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser)	rs750904267	0.00002
NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr)	rs995862502	0.00002
NM_001142800.2(EYS):c.1247G>A (p.Ser416Asn)	rs761318837	0.00001
NM_001142800.2(EYS):c.2936A>C (p.Glu979Ala)	rs372948826	0.00001
NM_001142800.2(EYS):c.3293C>A (p.Ala1098Glu)	rs561156283	0.00001
NM_001142800.2(EYS):c.3542A>G (p.Asn1181Ser)	rs1767601964	0.00001
NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser)	rs762475623	0.00001
NM_001142800.2(EYS):c.6446C>A (p.Ser2149Tyr)	rs537922564	0.00001
NM_001142800.2(EYS):c.6824A>G (p.His2275Arg)	rs765650947	0.00001
NM_001142800.2(EYS):c.853C>A (p.Gln285Lys)	rs988163418	0.00001
NM_001142800.2(EYS):c.2000G>A (p.Arg667His)	rs549456693
NM_001142800.2(EYS):c.3634T>C (p.Cys1212Arg)	rs536260976
NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe)	rs564315274
NM_001142800.2(EYS):c.7826G>C (p.Cys2609Ser)	rs755966517
NM_001142800.2(EYS):c.953A>C (p.Tyr318Ser)	rs772989862

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