ClinVar Miner

List of variants in gene EYS reported as likely pathogenic by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

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Total variants: 14
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HGVS dbSNP
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.1459+5C>T rs200387978
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.350del (p.Asn117fs)
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.7412-1G>C
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu)
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter)
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032

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