ClinVar Miner

List of variants in gene EYS reported as likely pathogenic for Retinitis pigmentosa

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Total variants: 34
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HGVS dbSNP
NC_000006.11:g.65133931_65156120dup
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.2(EYS):c.1211dup (p.Asn404fs)
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter) rs527236077
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) rs527236072
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.350del (p.Asn117fs)
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180
NM_001142800.2(EYS):c.4387del (p.Arg1463fs) rs527236075
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs) rs527236073
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter) rs527236074
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs) rs527236071
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter) rs1554183432
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter) rs1554204963
NM_001142800.2(EYS):c.6545del (p.Asn2182fs) rs1346842287
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter) rs1554194404
NM_001142800.2(EYS):c.7048del (p.Cys2350fs) rs527236069
NM_001142800.2(EYS):c.7412-1G>C
NM_001142800.2(EYS):c.7694del (p.Asn2565fs) rs527236078
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
Single allele

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