ClinVar Miner

List of variants in gene EYS reported as uncertain significance for not specified

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe) rs190009374 0.00075
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_001142800.2(EYS):c.3568+5T>C rs539477235 0.00034
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001142800.2(EYS):c.5038A>G (p.Asn1680Asp) rs540546920 0.00013
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr) rs138255012 0.00011
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln) rs749038401 0.00005
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe) rs202064483 0.00005
NM_001142800.2(EYS):c.3164+7A>T rs963551759 0.00004
NM_001142800.2(EYS):c.3226T>C (p.Cys1076Arg) rs780935714 0.00004
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu) rs766153322 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748 0.00001
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp) rs762212630 0.00001
NM_001142800.2(EYS):c.3443G>A (p.Arg1148Lys) rs1334016191 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp) rs886061672 0.00001
NM_001142800.2(EYS):c.7775G>A (p.Gly2592Glu) rs1471859071 0.00001
NM_001142800.2(EYS):c.939T>G (p.Ser313Arg) rs774342993 0.00001
GRCh37/hg19 6q12(chr6:65518898-65930927)
GRCh37/hg19 6q12(chr6:65564377-65671149)
GRCh37/hg19 6q12(chr6:65807262-66064094)
GRCh37/hg19 6q12(chr6:66302699-66360268)
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)dup
NC_000006.11:g.(66063511_66094278)_(66205887_66349670)dup
NC_000006.11:g.(66115261_66200486)_(66200601_66204555)dup
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val) rs540611114
NM_001142800.2(EYS):c.2803G>A (p.Glu935Lys) rs1403474828
NM_001142800.2(EYS):c.3131A>G (p.Asn1044Ser)
NM_001142800.2(EYS):c.400C>T (p.His134Tyr)
NM_001142800.2(EYS):c.4606C>G (p.Gln1536Glu) rs557152369
NM_001142800.2(EYS):c.4963T>A (p.Leu1655Met)
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.7624G>T (p.Val2542Phe) rs2149670380
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) rs527236064

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