ClinVar Miner

List of variants in gene EYS reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.-459C>T rs144371265 0.01261
NM_001142800.2(EYS):c.6726-24613G>T rs151229098 0.00698
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608 0.00464
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210 0.00223
NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu) rs145623359 0.00148
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys) rs150951106 0.00076
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_001142800.2(EYS):c.1459+5C>T rs200387978 0.00061
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His) rs778752557 0.00049
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr) rs146413074 0.00016
NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys) rs768964978 0.00016
NM_001142800.2(EYS):c.1766+2598del rs765911767 0.00009
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg) rs371491059 0.00006
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu) rs766153322 0.00003
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val) rs184448644 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001142800.2(EYS):c.2260-2dup rs1554220492 0.00001
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp) rs762212630 0.00001
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 0.00001
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.3112_3113insTCTTTGGAACAC (p.Thr1037_His1038insLeuPheGlyThr) rs1554207076
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs) rs1554220416
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup) rs1372494388
NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys) rs766515998
NM_001142800.2(EYS):c.7229-1G>A rs1554171033
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs) rs764229134

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