ClinVar Miner

List of variants studied for Stargardt disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 274
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_019098.4(CNGB3):c.*1639C>A rs990192 0.58635
NM_006017.3(PROM1):c.*1078A>G rs3130 0.53265
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_006017.3(PROM1):c.*667A>C rs2240688 0.21643
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val) rs3812153 0.15428
NM_022726.4(ELOVL4):c.*142G>C rs1512118 0.15383
NM_022726.4(ELOVL4):c.*667T>C rs16891260 0.15372
NM_022726.4(ELOVL4):c.-236C>T rs240307 0.14804
NM_022726.4(ELOVL4):c.*1669T>G rs2991 0.14296
NM_019098.4(CNGB3):c.*1638G>A rs28471019 0.09998
NM_006017.3(PROM1):c.786G>A (p.Ala262=) rs2286455 0.09727
NM_006017.3(PROM1):c.129C>T (p.Thr43=) rs10033086 0.09038
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly) rs3735972 0.08214
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=) rs3735970 0.08211
NM_006017.3(PROM1):c.15C>T (p.Leu5=) rs10033189 0.06194
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val) rs13265557 0.05793
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=) rs34839859 0.05572
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln) rs16916632 0.05057
NM_019098.5(CNGB3):c.1781+10A>T rs7000747 0.05032
NM_019098.5(CNGB3):c.211+13T>G rs66881636 0.04794
NM_006017.3(PROM1):c.1983+14G>A rs4698436 0.04259
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_022726.4(ELOVL4):c.*361C>T rs41270557 0.03380
NM_022726.4(ELOVL4):c.*609G>A rs41270555 0.03374
NM_022726.4(ELOVL4):c.*1066T>G rs45594338 0.03371
NM_022726.4(ELOVL4):c.*1551A>G rs55808788 0.02617
NM_019098.5(CNGB3):c.*778T>C rs16915859 0.01933
NM_019098.5(CNGB3):c.*389A>C rs16915861 0.01929
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys) rs114305748 0.01886
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser) rs35807406 0.01728
NM_019098.5(CNGB3):c.354G>T (p.Pro118=) rs75858066 0.01037
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) rs35010099 0.00978
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=) rs35903042 0.00786
NM_019098.5(CNGB3):c.*621G>A rs116835980 0.00669
NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr) rs148594713 0.00636
NM_019098.5(CNGB3):c.212-3T>C rs79126074 0.00635
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) rs140027620 0.00608
NM_006017.3(PROM1):c.1911+14G>A rs79077926 0.00565
NM_006017.3(PROM1):c.1683-3C>T rs143470288 0.00518
NM_006017.3(PROM1):c.*684C>T rs140362696 0.00496
NM_022726.4(ELOVL4):c.*509C>T rs149410136 0.00424
NM_022726.4(ELOVL4):c.*8T>C rs144822141 0.00421
NM_022726.4(ELOVL4):c.-98C>T rs562763990 0.00344
NM_022726.4(ELOVL4):c.-268T>G rs546271509 0.00343
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_019098.5(CNGB3):c.*29G>T rs138432513 0.00309
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289 0.00300
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_006017.3(PROM1):c.-25T>A rs149845694 0.00194
NM_006017.3(PROM1):c.1579-6T>C rs181261277 0.00190
NM_019098.5(CNGB3):c.*1459C>T rs192543896 0.00178
NM_022726.4(ELOVL4):c.*1050A>G rs114429396 0.00158
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_006017.3(PROM1):c.2211+7C>T rs372262346 0.00150
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00128
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg) rs112573107 0.00124
NM_019098.4(CNGB3):c.-32T>C rs376141938 0.00123
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg) rs150260103 0.00122
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_019098.5(CNGB3):c.*1183T>C rs78927155 0.00096
NM_022726.4(ELOVL4):c.-103G>C rs530801492 0.00096
NM_022726.4(ELOVL4):c.*40A>C rs185190995 0.00091
NM_006017.3(PROM1):c.714A>G (p.Gly238=) rs201662148 0.00088
NM_019098.5(CNGB3):c.*125G>C rs186370374 0.00087
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_006017.3(PROM1):c.*1149A>G rs543722299 0.00083
NM_022726.4(ELOVL4):c.699G>A (p.Thr233=) rs17853840 0.00073
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) rs200520976 0.00070
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr) rs144637286 0.00070
NM_006017.3(PROM1):c.*189A>G rs537324748 0.00068
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_019098.5(CNGB3):c.494-11T>C rs543970676 0.00062
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) rs202029748 0.00058
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg) rs146688972 0.00057
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=) rs141934736 0.00054
NM_019098.5(CNGB3):c.*51C>T rs189210452 0.00051
NM_022726.4(ELOVL4):c.*217C>G rs537775144 0.00051
NM_022726.4(ELOVL4):c.*1511G>A rs547251322 0.00049
NM_006017.3(PROM1):c.-168G>A rs180926533 0.00037
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) rs375358457 0.00036
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=) rs143131185 0.00036
NM_019098.5(CNGB3):c.*737T>C rs146999298 0.00034
NM_006017.3(PROM1):c.1911+8G>A rs370302107 0.00033
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe) rs78239264 0.00031
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494 0.00031
NM_022726.4(ELOVL4):c.*1048G>A rs569179100 0.00030
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_022726.4(ELOVL4):c.*377T>A rs77249894 0.00027
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) rs202041422 0.00026
NM_019098.5(CNGB3):c.*1371G>T rs372688369 0.00025
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp) rs186448979 0.00025
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_006017.3(PROM1):c.678G>A (p.Ala226=) rs187116049 0.00020
NM_006017.3(PROM1):c.843C>T (p.His281=) rs374394451 0.00019
NM_019098.5(CNGB3):c.*798A>C rs886063157 0.00019
NM_022726.4(ELOVL4):c.*349C>T rs1042694825 0.00019
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746 0.00017
NM_022726.4(ELOVL4):c.*146A>T rs1042725955 0.00017
NM_022726.4(ELOVL4):c.*327A>G rs1001220828 0.00017
NM_006017.3(PROM1):c.1279T>C (p.Leu427=) rs200710798 0.00016
NM_019098.5(CNGB3):c.*499G>C rs540507221 0.00016
NM_019098.5(CNGB3):c.*84C>T rs372938106 0.00015
NM_019098.5(CNGB3):c.*649A>G rs778028865 0.00014
NM_019098.5(CNGB3):c.*997A>G rs141428300 0.00014
NM_019098.5(CNGB3):c.*1470G>C rs568808064 0.00013
NM_019098.5(CNGB3):c.*293T>C rs141717983 0.00013
NM_019098.5(CNGB3):c.1833C>T (p.His611=) rs368787128 0.00013
NM_019098.5(CNGB3):c.624C>T (p.Asn208=) rs144347980 0.00013
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) rs369512467 0.00011
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) rs369815021 0.00011
NM_019098.5(CNGB3):c.*108C>T rs1031324821 0.00011
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln) rs377730576 0.00011
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile) rs138320784 0.00011
NM_006017.3(PROM1):c.-127A>G rs886059206 0.00010
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) rs146434364 0.00010
NM_022726.4(ELOVL4):c.*1020A>G rs563759730 0.00010
NM_022726.4(ELOVL4):c.*1506A>G rs886061798 0.00010
NM_006017.3(PROM1):c.376G>A (p.Val126Met) rs199556426 0.00009
NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val) rs200915130 0.00008
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) rs201870277 0.00007
NM_006017.3(PROM1):c.717C>T (p.Gly239=) rs763697898 0.00007
NM_022726.4(ELOVL4):c.*1568A>G rs886061796 0.00007
NM_006017.3(PROM1):c.*580T>A rs1250583925 0.00006
NM_006017.3(PROM1):c.277-15C>T rs372599685 0.00006
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr) rs150642676 0.00006
NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe) rs373286939 0.00006
NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn) rs202240228 0.00006
NM_019098.5(CNGB3):c.720C>T (p.Leu240=) rs770816095 0.00006
NM_022726.4(ELOVL4):c.-163C>A rs374986643 0.00006
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) rs201748228 0.00005
NM_006017.3(PROM1):c.1344C>T (p.Ile448=) rs147174580 0.00005
NM_006017.3(PROM1):c.2582+9A>C rs200033458 0.00005
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) rs752543587 0.00005
NM_022726.4(ELOVL4):c.-35C>T rs751105802 0.00005
NM_006017.3(PROM1):c.*1052G>A rs577484119 0.00004
NM_006017.3(PROM1):c.*1070A>G rs886059195 0.00004
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) rs770268627 0.00004
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) rs140682455 0.00004
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) rs763710252 0.00004
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) rs778896066 0.00004
NM_006017.3(PROM1):c.1579-12A>C rs370183490 0.00004
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) rs551849678 0.00004
NM_019098.5(CNGB3):c.*206G>A rs886063159 0.00004
NM_019098.5(CNGB3):c.*570T>C rs965656666 0.00004
NM_019098.5(CNGB3):c.*731C>T rs886063158 0.00004
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser) rs3735971 0.00004
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr) rs375288585 0.00004
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr) rs150490913 0.00004
NM_006017.3(PROM1):c.1301+10T>A rs192338518 0.00003
NM_006017.3(PROM1):c.1301+11C>A rs189953160 0.00003
NM_006017.3(PROM1):c.276+15G>T rs766012920 0.00003
NM_019098.5(CNGB3):c.*1476T>A rs914165933 0.00003
NM_022726.4(ELOVL4):c.-235C>T rs886061804 0.00003
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) rs779072238 0.00002
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) rs536622788 0.00002
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) rs372632641 0.00002
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) rs747844753 0.00002
NM_006017.3(PROM1):c.792G>A (p.Lys264=) rs776605111 0.00002
NM_019098.5(CNGB3):c.*183A>C rs1199541859 0.00002
NM_022726.4(ELOVL4):c.*1193T>C rs975960939 0.00002
NM_006017.3(PROM1):c.*198T>C rs1713762475 0.00001
NM_006017.3(PROM1):c.*681C>G rs947805890 0.00001
NM_006017.3(PROM1):c.*781G>A rs1713636052 0.00001
NM_006017.3(PROM1):c.*963A>G rs886059196 0.00001
NM_006017.3(PROM1):c.*985C>G rs937617123 0.00001
NM_006017.3(PROM1):c.-148G>A rs75531222 0.00001
NM_006017.3(PROM1):c.1002+5G>A rs1196489060 0.00001
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) rs1297490531 0.00001
NM_006017.3(PROM1):c.1578+9G>C rs747638667 0.00001
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) rs201644238 0.00001
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) rs886059201 0.00001
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) rs199674847 0.00001
NM_006017.3(PROM1):c.2309C>A (p.Pro770His) rs568361529 0.00001
NM_006017.3(PROM1):c.2397A>G (p.Gly799=) rs931618095 0.00001
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) rs201910962 0.00001
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) rs376198840 0.00001
NM_006017.3(PROM1):c.706G>A (p.Val236Met) rs536161084 0.00001
NM_019098.4(CNGB3):c.*1701C>T rs886063154 0.00001
NM_019098.5(CNGB3):c.*1218C>T rs1054383456 0.00001
NM_019098.5(CNGB3):c.*1368T>C rs886063155 0.00001
NM_019098.5(CNGB3):c.*1431G>A rs1337904740 0.00001
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys) rs886063160 0.00001
NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu) rs373679269 0.00001
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=) rs751667290 0.00001
NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn) rs1410218983 0.00001
NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe) rs750535143 0.00001
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr) rs1823848358 0.00001
NM_019098.5(CNGB3):c.738C>T (p.Thr246=) rs781628736 0.00001
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr) rs886063162 0.00001
NM_022726.4(ELOVL4):c.*125C>A rs181283522 0.00001
NM_022726.4(ELOVL4):c.*240C>T rs886061801 0.00001
NM_022726.4(ELOVL4):c.*309T>C rs1034507611 0.00001
NM_022726.4(ELOVL4):c.*363G>A rs1376229769 0.00001
NM_022726.4(ELOVL4):c.*606G>T rs907879501 0.00001
NM_022726.4(ELOVL4):c.*803T>C rs542722575 0.00001
NM_022726.4(ELOVL4):c.*905T>C rs886061799 0.00001
NM_022726.4(ELOVL4):c.*950T>C rs1458099165 0.00001
NM_022726.4(ELOVL4):c.*999A>G rs1172216845 0.00001
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=) rs201014417 0.00001
NM_022726.4(ELOVL4):c.735A>G (p.Lys245=) rs769435926 0.00001
NM_006017.3(PROM1):c.*107G>T rs1024479425
NM_006017.3(PROM1):c.*1143A>C rs544424652
NM_006017.3(PROM1):c.*1160A>G rs886059194
NM_006017.3(PROM1):c.*551A>T rs886059197
NM_006017.3(PROM1):c.*640T>A rs1713667197
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) rs1414948996
NM_006017.3(PROM1):c.105A>G (p.Glu35=) rs886059205
NM_006017.3(PROM1):c.1218C>G (p.Leu406=) rs886059203
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) rs886059202
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) rs200710798
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) rs755064227
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) rs886059200
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp) rs768320190
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) rs530749007
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) rs199727800
NM_006017.3(PROM1):c.2281-5C>G rs777654968
NM_006017.3(PROM1):c.2373+13C>G rs886059199
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) rs886059198
NM_006017.3(PROM1):c.2489+8T>C rs1433533825
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) rs534529507
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn) rs1734560540
NM_006017.3(PROM1):c.380G>T (p.Gly127Val) rs1733212554
NM_019098.4(CNGB3):c.*1654C>T rs796676165
NM_019098.4(CNGB3):c.*1705A>C rs982329960
NM_019098.4(CNGB3):c.*1733T>C rs970889903
NM_019098.4(CNGB3):c.-36T>G rs7812496
NM_019098.5(CNGB3):c.*1093C>T rs886063156
NM_019098.5(CNGB3):c.*1143T>C rs1821625317
NM_019098.5(CNGB3):c.*1303G>A rs17683284
NM_019098.5(CNGB3):c.*272G>T rs1821641223
NM_019098.5(CNGB3):c.*291T>A rs1821640855
NM_019098.5(CNGB3):c.*379T>G rs188787381
NM_019098.5(CNGB3):c.*435G>A rs964834349
NM_019098.5(CNGB3):c.*735A>G rs73269601
NM_019098.5(CNGB3):c.*800C>G rs1028298142
NM_019098.5(CNGB3):c.*915G>C rs189446254
NM_019098.5(CNGB3):c.-1G>A rs1825379377
NM_019098.5(CNGB3):c.1178+9T>C rs549858104
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=) rs768959472
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val) rs771889150
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=) rs1822365271
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr) rs1821645749
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala) rs778184687
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu) rs758681401
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu) rs1456633980
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg) rs1823317372
NM_022726.4(ELOVL4):c.*1038A>G rs578261043
NM_022726.4(ELOVL4):c.*1241T>G rs1582042288
NM_022726.4(ELOVL4):c.*1423A>G rs1774136809
NM_022726.4(ELOVL4):c.*163C>T rs945949866
NM_022726.4(ELOVL4):c.*360A>G rs537318852
NM_022726.4(ELOVL4):c.*373A>T rs886061800
NM_022726.4(ELOVL4):c.-125C>G rs886061803
NM_022726.4(ELOVL4):c.-1G>A rs1330070846
NM_022726.4(ELOVL4):c.-236C>G rs240307
NM_022726.4(ELOVL4):c.-248G>A rs886061805
NM_022726.4(ELOVL4):c.-252G>A rs539142746
NM_022726.4(ELOVL4):c.-258C>T rs886061806
NM_022726.4(ELOVL4):c.-262A>G rs886061807
NM_022726.4(ELOVL4):c.-90G>C rs62407622
NM_022726.4(ELOVL4):c.101-6C>G rs1774344408
NM_022726.4(ELOVL4):c.215del (p.Pro72fs) rs746047636
NM_022726.4(ELOVL4):c.502T>C (p.Leu168=) rs886061802

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