List of variants in gene EYS reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 24

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HGVS	dbSNP	gnomAD frequency
NM_001142800.2(EYS):c.2137+1G>A	rs199740930	0.00034
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)	rs749909863	0.00007
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)	rs755947942	0.00006
NM_001142800.2(EYS):c.3243+1G>A	rs1300490966	0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	rs752953889	0.00003
NM_001142800.2(EYS):c.32dup (p.Met12fs)	rs779372264	0.00002
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs)	rs878853349	0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter)	rs930421180	0.00001
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter)	rs372354156
NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)	rs1764939836
NM_001142800.2(EYS):c.3699del (p.Leu1234fs)	rs1318739667
NM_001142800.2(EYS):c.3885del (p.Lys1295fs)	rs1766427552
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	rs761238771
NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter)	rs2149831862
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs)	rs886044304
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter)	rs1766367970
NM_001142800.2(EYS):c.5644+2T>C	rs2149830870
NM_001142800.2(EYS):c.5927+1G>T	rs1444115520
NM_001142800.2(EYS):c.6079-2A>G
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs)	rs1488052513
NM_001142800.2(EYS):c.67dup (p.Thr23fs)	rs1766217655
NM_001142800.2(EYS):c.7055+1G>A	rs1582079626
NM_001142800.2(EYS):c.7228_7228+1delinsTA	rs1772614934
NM_001142800.2(EYS):c.730_733del (p.Cys244fs)	rs1766174156

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