ClinVar Miner

List of variants in gene EYS studied for Retinitis pigmentosa

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Total variants: 70
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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.64892926_64948294del55369
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
NM_001142800.1(EYS):c.1345A>T (p.Lys449Ter) rs527236077
NM_001142800.1(EYS):c.1750G>T (p.Glu584Ter) rs527236072
NM_001142800.1(EYS):c.1871C>T (p.Ser624Leu)
NM_001142800.1(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.1(EYS):c.2137+1G>A rs199740930
NM_001142800.1(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001142800.1(EYS):c.2620C>T (p.Gln874Ter) rs760798455
NM_001142800.1(EYS):c.3684+2T>A
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.4350_4356delTATAGCT (p.Ile1451Profs) rs761238771
NM_001142800.1(EYS):c.4387delA (p.Arg1463Glyfs) rs527236075
NM_001142800.1(EYS):c.4402_4403insTCAAGAGG (p.Asp1468Valfs) rs527236073
NM_001142800.1(EYS):c.4829_4832delCATT (p.Ser1610Phefs) rs886044304
NM_001142800.1(EYS):c.490C>T (p.Arg164Ter) rs794727631
NM_001142800.1(EYS):c.5014C>T (p.Gln1672Ter) rs527236074
NM_001142800.1(EYS):c.5202_5203del (p.Phe1735Glnfs) rs527236071
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.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.1(EYS):c.5928-2A>G rs181169439
NM_001142800.1(EYS):c.5928-3_5928-1delCAG rs1554152094
NM_001142800.1(EYS):c.613C>T (p.Pro205Ser) rs1554202833
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.6557G>A (p.Gly2186Glu) rs527236068
NM_001142800.1(EYS):c.6632C>T (p.Ser2211Leu) rs145623359
NM_001142800.1(EYS):c.6714delT (p.Ile2239Serfs) rs752953889
NM_001142800.1(EYS):c.6937C>T (p.Gln2313Ter) rs1554194404
NM_001142800.1(EYS):c.7048delT (p.Cys2350Alafs) rs527236069
NM_001142800.1(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575
NM_001142800.1(EYS):c.732T>A (p.Cys244Ter)
NM_001142800.1(EYS):c.7394C>G (p.Thr2465Ser)
NM_001142800.1(EYS):c.7694delA (p.Asn2565Metfs) rs527236078
NM_001142800.1(EYS):c.7793G>A (p.Gly2598Asp) rs527236064
NM_001142800.1(EYS):c.7868G>A (p.Gly2623Glu) rs559824825
NM_001142800.1(EYS):c.7919G>A (p.Trp2640Ter) rs527236066
NM_001142800.1(EYS):c.8012T>A (p.Leu2671Ter) rs527236076
NM_001142800.1(EYS):c.8111T>G (p.Leu2704Ter)
NM_001142800.1(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.1(EYS):c.8379_8380insTGCA (p.Glu2794Cysfs) rs527236070
NM_001142800.1(EYS):c.8618A>G (p.Asp2873Gly) rs1554163939
NM_001142800.1(EYS):c.8678delA (p.Asn2893Metfs) rs1554163929
NM_001142800.1(EYS):c.8779T>C (p.Cys2927Arg)
NM_001142800.1(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067
NM_001142800.1(EYS):c.9209T>C (p.Ile3070Thr) rs183589498
NM_001142800.1(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.2(EYS):c.1205dup (p.Asn404Lysfs)
NM_001142800.2(EYS):c.2023+5G>T
NM_001142800.2(EYS):c.230del (p.Cys78Alafs)
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
NM_001142800.2(EYS):c.347del (p.Asn117Ilefs)
NM_001142800.2(EYS):c.4957dup (p.Ser1653Lysfs) rs527236065
NM_001142800.2(EYS):c.6079_6191del (p.Met2027Ilefs)
NM_001142800.2(EYS):c.6590_6593del (p.Lys2198Serfs)
NM_001142800.2(EYS):c.7412-1G>C
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883Lysfs) rs528919874
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106Lysfs) rs1326370032
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)

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