ClinVar Miner

List of variants in gene EYS reported as likely pathogenic by NIHR Bioresource Rare Diseases,University of Cambridge

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NC_000006.11:g.65133931_65156120dup
NC_000006.12:g.63765706_63791377del25672
NC_000006.12:g.63781919_63803805del21887
NC_000006.12:g.63998528_64002157del3630
NC_000006.12:g.64892926_64948294del55369
NM_001142800.1(EYS):c.1211delA (p.Asn404Thrfs) rs764163418
NM_001142800.1(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.1(EYS):c.2976T>A (p.Cys992Ter) rs1554214453
NM_001142800.1(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.1(EYS):c.4045C>T (p.Arg1349Ter) rs930421180
NM_001142800.1(EYS):c.5317_5342del26insTA (p.Asn1773_His2115delinsTer) rs1554183440
NM_001142800.1(EYS):c.5408C>G (p.Ser1803Ter) rs1554183432
NM_001142800.1(EYS):c.5928-3_5928-1delCAG rs1554152094
NM_001142800.1(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708
NM_001142800.1(EYS):c.6473T>C (p.Leu2158Pro) rs777735735
NM_001142800.1(EYS):c.6502G>T (p.Glu2168Ter) rs1554204963
NM_001142800.1(EYS):c.6545delA (p.Asn2182Thrfs) rs1346842287
NM_001142800.1(EYS):c.6937C>T (p.Gln2313Ter) rs1554194404
NM_001142800.1(EYS):c.7994G>A (p.Gly2665Glu) rs1435861529
NM_001142800.1(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.1(EYS):c.977G>A (p.Ser326Asn) rs112822256

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