ClinVar Miner

List of variants in gene EYS reported as pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777 0.00012
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.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.1766+1G>T rs776204925 0.00002
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 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.5054C>G (p.Ser1685Ter) rs1293996279 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.96G>A (p.Trp32Ter) rs1388177618 0.00001
NC_000006.12:g.(65402477_65384501)_(65495411_?)del
NM_001142800.2(EYS):c.1299+3A>C
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1307_1310del (p.Cys436fs) rs2533203525
NM_001142800.2(EYS):c.1376del (p.Cys459fs)
NM_001142800.2(EYS):c.1442G>A (p.Trp481Ter) rs2533202515
NM_001142800.2(EYS):c.1459+1G>T
NM_001142800.2(EYS):c.150C>A (p.Cys50Ter)
NM_001142800.2(EYS):c.2280_2283del (p.Ser761fs) rs2533459473
NM_001142800.2(EYS):c.2799del (p.Ser934fs)
NM_001142800.2(EYS):c.2829T>A (p.Cys943Ter) rs2533358904
NM_001142800.2(EYS):c.2854del (p.Cys952fs) rs779877426
NM_001142800.2(EYS):c.3503C>A (p.Ser1168Ter) rs894122437
NM_001142800.2(EYS):c.3562C>T (p.Gln1188Ter) rs2149856749
NM_001142800.2(EYS):c.3612_3625del (p.Pro1204_Asn1205insTer)
NM_001142800.2(EYS):c.3954del (p.Leu1319fs)
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4392_4393del (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4613_4616del (p.Leu1538fs) rs1582929649
NM_001142800.2(EYS):c.4760G>A (p.Trp1587Ter) rs2149831862
NM_001142800.2(EYS):c.4815_4816delinsATAG (p.Thr1606Ter)
NM_001142800.2(EYS):c.5129del (p.Thr1710fs)
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter) rs1766367970
NM_001142800.2(EYS):c.5666del (p.Tyr1889fs) rs2533226453
NM_001142800.2(EYS):c.607C>T (p.Gln203Ter) rs1766182274
NM_001142800.2(EYS):c.6191+2T>C rs1769469813
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs) rs1488052513
NM_001142800.2(EYS):c.694del (p.Arg232fs) rs2533027394
NM_001142800.2(EYS):c.7131del (p.Asn2377fs)
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.788_789del (p.His263fs)
NM_001142800.2(EYS):c.819dup (p.Thr274fs)
NM_001142800.2:c.(1766+1_1767-1)_(2023+1_2024-1)del
NM_001142800.2:c.(1766+1_1767-1)_(3443+1_3444-1)del
NM_001142800.2:c.(2023+1_2024-1)_(2259+1_2260-1)del
NM_001142800.2:c.(2023+1_2024-1)_(2992+1_2993-1)del
NM_001142800.2:c.(6191+1_6192-1)_(6424+1_6425-1)dup
NM_001142800.2:c.(7228+1_7229-1)_(7898+1_7899-1)dup

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