ClinVar Miner

List of variants in gene EYS reported as pathogenic for not provided

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Gene type:
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Total variants: 34
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HGVS dbSNP
GRCh37/hg19 6q12(chr6:65558549-65955260)x1
GRCh37/hg19 6q12(chr6:65600602-65657511)x1
GRCh37/hg19 6q12(chr6:65603577-65657511)x1
GRCh37/hg19 6q12(chr6:65611750-65764521)x1
GRCh37/hg19 6q12(chr6:65614168-65949448)x1
GRCh37/hg19 6q12(chr6:65648091-65663089)x1
GRCh37/hg19 6q12(chr6:65690292-65840802)x1
NC_000006.11:g.(?_65327301)_(65327436_?)del
NC_000006.11:g.(?_65611996)_(65655817_?)del
NC_000006.11:g.(?_66094269)_(66094403_?)del
NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter)
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)
NM_001142800.2(EYS):c.2811C>A (p.Cys937Ter) rs1466666397
NM_001142800.2(EYS):c.3443+1G>T rs373441420
NM_001142800.2(EYS):c.361del (p.Glu121fs)
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.4116_4117insGC (p.Ile1373fs)
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4608_4609GA[1] (p.Arg1537fs) rs886042613
NM_001142800.2(EYS):c.4825_4828CATT[1] (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631
NM_001142800.2(EYS):c.6102del (p.Phe2034fs)
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs) rs1554220416
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.6791dup (p.Pro2265fs)
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575
NM_001142800.2(EYS):c.7228+1G>A
NM_001142800.2(EYS):c.7422_7423del (p.Gly2474_Asp2475insTer) rs1554169630
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer) rs1064796020
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752

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