ClinVar Miner

List of variants in gene EYS studied for Autosomal recessive retinitis pigmentosa

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Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340 0.00124
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) rs145274061 0.00118
NM_001142800.2(EYS):c.6394C>T (p.Leu2132=) rs149332790 0.00103
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=) rs373606872 0.00051
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.2068T>A (p.Cys690Ser) rs370950723 0.00042
NM_001142800.2(EYS):c.2598C>T (p.Cys866=) rs183814213 0.00040
NM_001142800.2(EYS):c.2553C>T (p.Asn851=) rs771641817 0.00037
NM_001142800.2(EYS):c.1748A>C (p.Asp583Ala) rs113591099 0.00034
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) rs35504565 0.00029
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=) rs774188028 0.00021
NM_001142800.2(EYS):c.2539C>T (p.His847Tyr) rs145729428 0.00019
NM_001142800.2(EYS):c.2903A>G (p.Asn968Ser) rs535658960 0.00018
NM_001142800.2(EYS):c.1059T>A (p.Asp353Glu) rs138954858 0.00017
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=) rs995130689 0.00016
NM_001142800.2(EYS):c.6732A>G (p.Thr2244=) rs899618893 0.00016
NM_001142800.2(EYS):c.453T>A (p.Val151=) rs373183802 0.00015
NM_001142800.2(EYS):c.4640A>G (p.Asp1547Gly) rs1010782574 0.00014
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=) rs564151798 0.00013
NM_001142800.2(EYS):c.1466A>T (p.Glu489Val) rs140518088 0.00011
NM_001142800.2(EYS):c.4559C>G (p.Ala1520Gly) rs751565795 0.00011
NM_001142800.2(EYS):c.5053T>G (p.Ser1685Ala) rs759642068 0.00011
NM_001142800.2(EYS):c.3202G>A (p.Asp1068Asn) rs747998145 0.00010
NM_001142800.2(EYS):c.7724-3A>G rs1407901884 0.00010
NM_001142800.2(EYS):c.5567G>A (p.Arg1856Gln) rs563441026 0.00009
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=) rs775877185 0.00009
NM_001142800.2(EYS):c.3773C>T (p.Thr1258Ile) rs372304848 0.00008
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=) rs745673114 0.00008
NM_001142800.2(EYS):c.831T>A (p.Ser277Arg) rs759315564 0.00008
NM_001142800.2(EYS):c.380G>T (p.Gly127Val) rs201076128 0.00007
NM_001142800.2(EYS):c.6409C>T (p.Arg2137Cys) rs763862423 0.00007
NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg) rs751746614 0.00007
NM_001142800.2(EYS):c.8048C>A (p.Thr2683Asn) rs996098321 0.00007
NM_001142800.2(EYS):c.8233+9G>A rs779154270 0.00007
NM_001142800.2(EYS):c.-209C>T rs1004023794 0.00006
NM_001142800.2(EYS):c.1461A>T (p.Gly487=) rs376870255 0.00006
NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg) rs371491059 0.00006
NM_001142800.2(EYS):c.4100C>T (p.Ser1367Leu) rs773888841 0.00006
NM_001142800.2(EYS):c.4156G>A (p.Asp1386Asn) rs376632836 0.00006
NM_001142800.2(EYS):c.6410G>A (p.Arg2137His) rs369090261 0.00006
NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr) rs372512515 0.00006
NM_001142800.2(EYS):c.6961A>C (p.Ile2321Leu) rs149823162 0.00005
NM_001142800.2(EYS):c.1293A>T (p.Arg431Ser) rs371607669 0.00004
NM_001142800.2(EYS):c.1462T>G (p.Ser488Ala) rs754245105 0.00004
NM_001142800.2(EYS):c.1470C>T (p.Gly490=) rs778161042 0.00004
NM_001142800.2(EYS):c.1973G>C (p.Ser658Thr) rs1486743340 0.00004
NM_001142800.2(EYS):c.3028T>C (p.Ser1010Pro) rs557931285 0.00004
NM_001142800.2(EYS):c.3243+3A>G rs75242532 0.00004
NM_001142800.2(EYS):c.4108C>T (p.His1370Tyr) rs1381744132 0.00004
NM_001142800.2(EYS):c.6763A>G (p.Met2255Val) rs1015509320 0.00004
NM_001142800.2(EYS):c.6874A>C (p.Asn2292His) rs906094515 0.00004
NM_001142800.2(EYS):c.7454G>A (p.Gly2485Asp) rs560012389 0.00004
NM_001142800.2(EYS):c.1314A>G (p.Pro438=) rs375043207 0.00003
NM_001142800.2(EYS):c.1483G>C (p.Gly495Arg) rs771221172 0.00003
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter) rs928803207 0.00003
NM_001142800.2(EYS):c.5660G>A (p.Arg1887His) rs1218030959 0.00003
NM_001142800.2(EYS):c.5777A>G (p.Asp1926Gly) rs727503922 0.00003
NM_001142800.2(EYS):c.5836-4A>G rs569870900 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.6726-7C>T rs886782734 0.00003
NM_001142800.2(EYS):c.7820G>T (p.Gly2607Val) rs1328331376 0.00003
NM_001142800.2(EYS):c.7937C>T (p.Thr2646Ile) rs949510910 0.00003
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=) rs370845590 0.00003
NM_001142800.2(EYS):c.868T>C (p.Phe290Leu) rs373557623 0.00003
NM_001142800.2(EYS):c.943G>A (p.Ala315Thr) rs771167869 0.00003
NM_001142800.2(EYS):c.-351C>T rs761045622 0.00002
NM_001142800.2(EYS):c.151T>C (p.Leu51=) rs757997501 0.00002
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys) rs765763663 0.00002
NM_001142800.2(EYS):c.2248G>C (p.Asp750His) rs976643386 0.00002
NM_001142800.2(EYS):c.2770C>G (p.Leu924Val) rs1040002337 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142800.2(EYS):c.3926G>A (p.Gly1309Asp) rs1286144518 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser) rs750904267 0.00002
NM_001142800.2(EYS):c.6934C>G (p.Leu2312Val) rs564315274 0.00002
NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr) rs995862502 0.00002
NM_001142800.2(EYS):c.89A>G (p.Glu30Gly) rs541140905 0.00002
NM_001142800.2(EYS):c.-201C>T rs555933041 0.00001
NM_001142800.2(EYS):c.1108A>G (p.Ile370Val) rs199647597 0.00001
NM_001142800.2(EYS):c.1397A>G (p.His466Arg) rs773496819 0.00001
NM_001142800.2(EYS):c.2318A>G (p.Asn773Ser) rs1769270358 0.00001
NM_001142800.2(EYS):c.2936A>C (p.Glu979Ala) rs372948826 0.00001
NM_001142800.2(EYS):c.3293C>A (p.Ala1098Glu) rs561156283 0.00001
NM_001142800.2(EYS):c.3335C>T (p.Ala1112Val) rs1274231318 0.00001
NM_001142800.2(EYS):c.3420G>A (p.Gly1140=) rs1325335839 0.00001
NM_001142800.2(EYS):c.3542A>G (p.Asn1181Ser) rs1767601964 0.00001
NM_001142800.2(EYS):c.4030G>A (p.Asp1344Asn) rs980448170 0.00001
NM_001142800.2(EYS):c.4849A>T (p.Ile1617Leu) rs551487472 0.00001
NM_001142800.2(EYS):c.5114G>A (p.Arg1705Lys) rs1260159911 0.00001
NM_001142800.2(EYS):c.5131A>G (p.Met1711Val) rs913147481 0.00001
NM_001142800.2(EYS):c.5186A>C (p.Lys1729Thr) rs1378944082 0.00001
NM_001142800.2(EYS):c.5262G>A (p.Pro1754=) rs779784002 0.00001
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=) rs1042931370 0.00001
NM_001142800.2(EYS):c.5733T>G (p.Phe1911Leu) rs1218274693 0.00001
NM_001142800.2(EYS):c.57A>G (p.Ile19Met) rs751094898 0.00001
NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser) rs762475623 0.00001
NM_001142800.2(EYS):c.6043A>G (p.Ile2015Val) rs772606637 0.00001
NM_001142800.2(EYS):c.6344A>G (p.His2115Arg) rs1046447869 0.00001
NM_001142800.2(EYS):c.6446C>A (p.Ser2149Tyr) rs537922564 0.00001
NM_001142800.2(EYS):c.6824A>G (p.His2275Arg) rs765650947 0.00001
NM_001142800.2(EYS):c.6955T>C (p.Phe2319Leu) rs1212043673 0.00001
NM_001142800.2(EYS):c.7122T>C (p.Ser2374=) rs890076073 0.00001
NM_001142800.2(EYS):c.7170C>T (p.Ser2390=) rs201364943 0.00001
NM_001142800.2(EYS):c.7482G>C (p.Gly2494=) rs1276511581 0.00001
NM_001142800.2(EYS):c.7753G>A (p.Glu2585Lys) rs1221830320 0.00001
NM_001142800.2(EYS):c.7803T>C (p.Asn2601=) rs1342639553 0.00001
NM_001142800.2(EYS):c.-350G>A rs886061687
NM_001142800.2(EYS):c.-350G>T rs886061687
NM_001142800.2(EYS):c.1432G>A (p.Glu478Lys) rs1403117224
NM_001142800.2(EYS):c.1599+7T>C rs755565799
NM_001142800.2(EYS):c.159C>G (p.Phe53Leu) rs1766211185
NM_001142800.2(EYS):c.1625T>C (p.Leu542Ser) rs1769937884
NM_001142800.2(EYS):c.1698T>C (p.Asn566=) rs1156347961
NM_001142800.2(EYS):c.1766G>A (p.Arg589Lys) rs1769929028
NM_001142800.2(EYS):c.1767-6T>C rs1768658442
NM_001142800.2(EYS):c.179del (p.Leu60fs) rs786205652
NM_001142800.2(EYS):c.2641G>A (p.Glu881Lys) rs1768029780
NM_001142800.2(EYS):c.2739G>T (p.Arg913Ser) rs77020971
NM_001142800.2(EYS):c.3319C>A (p.Arg1107Ser) rs766897712
NM_001142800.2(EYS):c.3319C>T (p.Arg1107Cys) rs766897712
NM_001142800.2(EYS):c.33G>C (p.Leu11=) rs777361054
NM_001142800.2(EYS):c.3404G>A (p.Gly1135Glu) rs1764655776
NM_001142800.2(EYS):c.359C>G (p.Thr120Arg) rs12193967
NM_001142800.2(EYS):c.3634T>C (p.Cys1212Arg) rs536260976
NM_001142800.2(EYS):c.4106C>T (p.Ser1369Leu) rs769949135
NM_001142800.2(EYS):c.4723T>G (p.Leu1575Val) rs765741480
NM_001142800.2(EYS):c.5035A>T (p.Met1679Leu) rs1271352313
NM_001142800.2(EYS):c.5116C>G (p.Gln1706Glu) rs1221943541
NM_001142800.2(EYS):c.5225G>A (p.Ser1742Asn) rs1766375527
NM_001142800.2(EYS):c.5600C>A (p.Ser1867Tyr) rs542339299
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) rs542339299
NM_001142800.2(EYS):c.5630G>A (p.Arg1877Gln) rs780006257
NM_001142800.2(EYS):c.6302C>T (p.Ser2101Phe) rs779392354
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=) rs556671009
NM_001142800.2(EYS):c.7062T>A (p.Asn2354Lys) rs1367535493
NM_001142800.2(EYS):c.7260C>T (p.Gly2420=) rs1770908773
NM_001142800.2(EYS):c.7321C>T (p.His2441Tyr) rs1770906877
NM_001142800.2(EYS):c.7579-11dup rs1044534941
NM_001142800.2(EYS):c.7649T>C (p.Phe2550Ser) rs1770415462
NM_001142800.2(EYS):c.7748G>A (p.Arg2583His) rs564020009
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.875_888delinsTTT (p.Glu292fs) rs1766687373
NM_001142800.2(EYS):c.910dup (p.Trp304fs) rs34676630
NM_001142800.2(EYS):c.953A>C (p.Tyr318Ser) rs772989862

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