ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 366
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.*680G>A rs56113622 0.00888
NM_000329.3(RPE65):c.*341T>C rs74084042 0.00885
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901 0.00232
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164 0.00199
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878 0.00103
NM_000329.3(RPE65):c.496-4G>A rs138146176 0.00069
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581 0.00059
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000329.3(RPE65):c.117C>T (p.Thr39=) rs143929144 0.00050
NM_000329.3(RPE65):c.644-42del rs61752893 0.00039
NM_000329.3(RPE65):c.102C>A (p.Ile34=) rs146357166 0.00034
NM_000329.3(RPE65):c.1435T>C (p.Leu479=) rs373882259 0.00034
NM_000329.3(RPE65):c.1446T>C (p.Asp482=) rs72926953 0.00017
NM_000329.3(RPE65):c.168A>G (p.Pro56=) rs150260489 0.00016
NM_000329.3(RPE65):c.408C>T (p.Val136=) rs373547092 0.00014
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543 0.00012
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666 0.00011
NM_000329.3(RPE65):c.237C>T (p.Tyr79=) rs371095928 0.00011
NM_000329.3(RPE65):c.859-11C>T rs369772824 0.00010
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) rs201379753 0.00009
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561 0.00009
NM_000329.3(RPE65):c.94+9C>A rs747174742 0.00008
NM_000329.3(RPE65):c.95-10T>A rs547374432 0.00007
NM_000329.3(RPE65):c.1244-20G>A rs772290877 0.00006
NM_000329.3(RPE65):c.245+14C>T rs368381348 0.00006
NM_000329.3(RPE65):c.859-10A>G rs752810906 0.00006
NM_000329.3(RPE65):c.1104T>C (p.Tyr368=) rs764797700 0.00004
NM_000329.3(RPE65):c.1129-5C>T rs368533067 0.00004
NM_000329.3(RPE65):c.1244-17T>A rs528268427 0.00004
NM_000329.3(RPE65):c.75G>A (p.Pro25=) rs199529021 0.00004
NM_000329.3(RPE65):c.94+10G>A rs777879312 0.00004
NM_000329.3(RPE65):c.942C>T (p.His314=) rs752875512 0.00004
NM_000329.3(RPE65):c.1338+8A>G rs777211540 0.00003
NM_000329.3(RPE65):c.1452T>A (p.Gly484=) rs775602082 0.00003
NM_000329.3(RPE65):c.1548T>C (p.Ala516=) rs546103655 0.00003
NM_000329.3(RPE65):c.246-7C>T rs372100362 0.00003
NM_000329.3(RPE65):c.1243+10T>C rs548537552 0.00002
NM_000329.3(RPE65):c.1431T>C (p.Asp477=) rs570518981 0.00002
NM_000329.3(RPE65):c.1473G>C (p.Val491=) rs748413171 0.00002
NM_000329.3(RPE65):c.1575C>T (p.Thr525=) rs145318478 0.00002
NM_000329.3(RPE65):c.165G>A (p.Glu55=) rs375272714 0.00002
NM_000329.3(RPE65):c.353+7G>A rs773557127 0.00002
NM_000329.3(RPE65):c.402T>C (p.Val134=) rs1467212381 0.00002
NM_000329.3(RPE65):c.496-5C>T rs769548166 0.00002
NM_000329.3(RPE65):c.564C>T (p.Thr188=) rs764476046 0.00002
NM_000329.3(RPE65):c.621A>G (p.Val207=) rs746032112 0.00002
NM_000329.3(RPE65):c.747T>C (p.Tyr249=) rs764888162 0.00002
NM_000329.3(RPE65):c.807T>C (p.Ser269=) rs774896870 0.00002
NM_000329.3(RPE65):c.825C>T (p.Tyr275=) rs988133284 0.00002
NM_000329.3(RPE65):c.105C>T (p.Pro35=) rs996390276 0.00001
NM_000329.3(RPE65):c.1083C>A (p.Pro361=) rs756209191 0.00001
NM_000329.3(RPE65):c.1092A>G (p.Glu364=) rs751860030 0.00001
NM_000329.3(RPE65):c.1221T>C (p.Val407=) rs771095890 0.00001
NM_000329.3(RPE65):c.1233G>A (p.Gly411=) rs373834001 0.00001
NM_000329.3(RPE65):c.1243+18A>G rs749922257 0.00001
NM_000329.3(RPE65):c.1244-6T>C rs1290347377 0.00001
NM_000329.3(RPE65):c.126C>T (p.Leu42=) rs148973921 0.00001
NM_000329.3(RPE65):c.1299T>C (p.Tyr433=) rs763437650 0.00001
NM_000329.3(RPE65):c.1371T>C (p.Thr457=) rs372273815 0.00001
NM_000329.3(RPE65):c.1398C>T (p.Tyr466=) rs764189309 0.00001
NM_000329.3(RPE65):c.1407A>G (p.Glu469=) rs762977154 0.00001
NM_000329.3(RPE65):c.1451-7T>C rs773933584 0.00001
NM_000329.3(RPE65):c.1459C>T (p.Leu487=) rs1404827828 0.00001
NM_000329.3(RPE65):c.1485A>C (p.Ala495=) rs753956649 0.00001
NM_000329.3(RPE65):c.1581T>C (p.His527=) rs768915904 0.00001
NM_000329.3(RPE65):c.264T>C (p.Ala88=) rs771159132 0.00001
NM_000329.3(RPE65):c.267C>T (p.Tyr89=) rs372620785 0.00001
NM_000329.3(RPE65):c.327A>G (p.Pro109=) rs1356737522 0.00001
NM_000329.3(RPE65):c.354-7T>C rs776756253 0.00001
NM_000329.3(RPE65):c.375A>G (p.Gly125=) rs992113946 0.00001
NM_000329.3(RPE65):c.450C>T (p.Asn150=) rs370004418 0.00001
NM_000329.3(RPE65):c.45G>T (p.Leu15=) rs1292301823 0.00001
NM_000329.3(RPE65):c.495+10A>G rs1186657454 0.00001
NM_000329.3(RPE65):c.496-10A>C rs372059562 0.00001
NM_000329.3(RPE65):c.496-14C>T rs763256793 0.00001
NM_000329.3(RPE65):c.576T>A (p.Ile192=) rs747122876 0.00001
NM_000329.3(RPE65):c.624G>A (p.Lys208=) rs1170839612 0.00001
NM_000329.3(RPE65):c.634C>T (p.Leu212=) rs1020549411 0.00001
NM_000329.3(RPE65):c.63A>G (p.Glu21=) rs1043155791 0.00001
NM_000329.3(RPE65):c.643+10C>A rs758825902 0.00001
NM_000329.3(RPE65):c.643+19C>T rs371106770 0.00001
NM_000329.3(RPE65):c.717C>T (p.Tyr239=) rs1366781286 0.00001
NM_000329.3(RPE65):c.726-19C>A rs1219424509 0.00001
NM_000329.3(RPE65):c.726-9T>C rs751054481 0.00001
NM_000329.3(RPE65):c.750C>T (p.Ile250=) rs759403626 0.00001
NM_000329.3(RPE65):c.774A>G (p.Lys258=) rs1264648487 0.00001
NM_000329.3(RPE65):c.777T>C (p.Ile259=) rs762186209 0.00001
NM_000329.3(RPE65):c.783G>T (p.Leu261=) rs188493184 0.00001
NM_000329.3(RPE65):c.798T>C (p.Ser266=) rs1645882700 0.00001
NM_000329.3(RPE65):c.822C>T (p.Asn274=) rs777207027 0.00001
NM_000329.3(RPE65):c.886A>C (p.Arg296=) rs1399365841 0.00001
NM_000329.3(RPE65):c.888G>A (p.Arg296=) rs778422718 0.00001
NM_000329.3(RPE65):c.894G>A (p.Lys298=) rs768068723 0.00001
NM_000329.3(RPE65):c.957A>G (p.Glu319=) rs753954638 0.00001
NM_000329.3(RPE65):c.987C>T (p.Cys329=) rs1250396948 0.00001
NM_000329.3(RPE65):c.1017T>C (p.Asn339=) rs780869180
NM_000329.3(RPE65):c.1020C>T (p.Tyr340=) rs2100817149
NM_000329.3(RPE65):c.1023A>G (p.Leu341=)
NM_000329.3(RPE65):c.1062A>G (p.Lys354=) rs2100817026
NM_000329.3(RPE65):c.1065A>G (p.Lys355=)
NM_000329.3(RPE65):c.1071C>G (p.Ala357=)
NM_000329.3(RPE65):c.1072A>C (p.Arg358=) rs1307155552
NM_000329.3(RPE65):c.1077G>A (p.Lys359=)
NM_000329.3(RPE65):c.108C>T (p.Leu36=) rs749757610
NM_000329.3(RPE65):c.1098G>A (p.Arg366=) rs764589805
NM_000329.3(RPE65):c.11+10T>C
NM_000329.3(RPE65):c.11+12T>C
NM_000329.3(RPE65):c.11+13G>A
NM_000329.3(RPE65):c.11+17G>A
NM_000329.3(RPE65):c.11+18A>T
NM_000329.3(RPE65):c.1119T>C (p.Asn373=)
NM_000329.3(RPE65):c.1122T>C (p.Ile374=)
NM_000329.3(RPE65):c.1125C>T (p.Asp375=) rs771869960
NM_000329.3(RPE65):c.1128+20A>G
NM_000329.3(RPE65):c.1128+7T>C
NM_000329.3(RPE65):c.1129-12C>G
NM_000329.3(RPE65):c.1129-13T>A rs374162988
NM_000329.3(RPE65):c.1129-16T>G
NM_000329.3(RPE65):c.1129-18T>G
NM_000329.3(RPE65):c.1129-7C>G
NM_000329.3(RPE65):c.1137A>G (p.Thr379=) rs2100808086
NM_000329.3(RPE65):c.1149A>G (p.Leu383=) rs2100808067
NM_000329.3(RPE65):c.1152C>G (p.Val384=) rs1571158917
NM_000329.3(RPE65):c.1158C>T (p.Leu386=) rs2100808030
NM_000329.3(RPE65):c.1161C>T (p.Pro387=)
NM_000329.3(RPE65):c.1167A>C (p.Thr389=) rs2100807982
NM_000329.3(RPE65):c.1179A>C (p.Ala393=)
NM_000329.3(RPE65):c.1179A>G (p.Ala393=)
NM_000329.3(RPE65):c.117C>G (p.Thr39=) rs143929144
NM_000329.3(RPE65):c.1185G>C (p.Leu395=)
NM_000329.3(RPE65):c.12-7A>G rs1645960187
NM_000329.3(RPE65):c.1209G>A (p.Leu403=)
NM_000329.3(RPE65):c.1215T>A (p.Pro405=)
NM_000329.3(RPE65):c.1218A>G (p.Glu406=) rs1571158792
NM_000329.3(RPE65):c.1230A>C (p.Ser410=)
NM_000329.3(RPE65):c.1243+14G>A
NM_000329.3(RPE65):c.1243+16G>A
NM_000329.3(RPE65):c.1243+7T>C
NM_000329.3(RPE65):c.1243+8G>A
NM_000329.3(RPE65):c.1243+8G>C
NM_000329.3(RPE65):c.1243+9A>T rs375375768
NM_000329.3(RPE65):c.1244-19C>A
NM_000329.3(RPE65):c.1244-19C>T
NM_000329.3(RPE65):c.1244-4G>A
NM_000329.3(RPE65):c.1244-4G>T
NM_000329.3(RPE65):c.1244-9A>G rs1042120764
NM_000329.3(RPE65):c.1245A>G (p.Ala415=)
NM_000329.3(RPE65):c.1248T>C (p.Phe416=) rs780625967
NM_000329.3(RPE65):c.1251G>A (p.Glu417=)
NM_000329.3(RPE65):c.1254T>C (p.Phe418=) rs756785114
NM_000329.3(RPE65):c.1269C>T (p.Tyr423=) rs1355323529
NM_000329.3(RPE65):c.126C>G (p.Leu42=) rs148973921
NM_000329.3(RPE65):c.1278T>C (p.Tyr426=)
NM_000329.3(RPE65):c.1302G>A (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>C (p.Ala434=) rs62636301
NM_000329.3(RPE65):c.1302G>T (p.Ala434=)
NM_000329.3(RPE65):c.1305T>C (p.Tyr435=)
NM_000329.3(RPE65):c.1314C>A (p.Gly438=)
NM_000329.3(RPE65):c.1335T>C (p.Asp445=) rs746506594
NM_000329.3(RPE65):c.1338+10C>T rs2100807260
NM_000329.3(RPE65):c.1338+11C>G
NM_000329.3(RPE65):c.1338+13T>C
NM_000329.3(RPE65):c.1338+15T>C
NM_000329.3(RPE65):c.1338+17A>T
NM_000329.3(RPE65):c.1338+19T>A
NM_000329.3(RPE65):c.1338+9T>A rs2100807262
NM_000329.3(RPE65):c.1339-11C>T
NM_000329.3(RPE65):c.1339-4del
NM_000329.3(RPE65):c.1341C>G (p.Leu447=) rs2100807097
NM_000329.3(RPE65):c.1395A>G (p.Ser465=) rs764923358
NM_000329.3(RPE65):c.1401A>G (p.Pro467=)
NM_000329.3(RPE65):c.1450+10G>A rs1009277050
NM_000329.3(RPE65):c.1450+13A>C rs371783875
NM_000329.3(RPE65):c.1450+13A>G
NM_000329.3(RPE65):c.1450+19G>C
NM_000329.3(RPE65):c.1450+20T>C
NM_000329.3(RPE65):c.1450+20T>G
NM_000329.3(RPE65):c.1451-6A>T rs2100805367
NM_000329.3(RPE65):c.1451-9G>C rs1291761354
NM_000329.3(RPE65):c.1455A>G (p.Val485=)
NM_000329.3(RPE65):c.1458T>A (p.Val486=) rs2100805312
NM_000329.3(RPE65):c.1461G>C (p.Leu487=)
NM_000329.3(RPE65):c.1464T>C (p.Ser488=) rs769814819
NM_000329.3(RPE65):c.1473G>A (p.Val491=)
NM_000329.3(RPE65):c.1476C>T (p.Ser492=) rs778912170
NM_000329.3(RPE65):c.1491A>G (p.Gln497=) rs766848627
NM_000329.3(RPE65):c.1509G>A (p.Leu503=) rs750750345
NM_000329.3(RPE65):c.1513C>T (p.Leu505=)
NM_000329.3(RPE65):c.1515G>A (p.Leu505=) rs2100805164
NM_000329.3(RPE65):c.1518T>C (p.Asn506=) rs2100805159
NM_000329.3(RPE65):c.1524G>A (p.Lys508=) rs369335287
NM_000329.3(RPE65):c.1528T>C (p.Leu510=)
NM_000329.3(RPE65):c.1545G>A (p.Arg515=) rs2100805075
NM_000329.3(RPE65):c.1554G>A (p.Val518=)
NM_000329.3(RPE65):c.1560T>A (p.Ile520=)
NM_000329.3(RPE65):c.1563C>T (p.Asn521=)
NM_000329.3(RPE65):c.156T>G (p.Val52=) rs1645945856
NM_000329.3(RPE65):c.1578T>C (p.Phe526=)
NM_000329.3(RPE65):c.1584A>G (p.Gly528=) rs2100804966
NM_000329.3(RPE65):c.1587G>C (p.Leu529=)
NM_000329.3(RPE65):c.1596A>G (p.Lys532=)
NM_000329.3(RPE65):c.162T>C (p.Ser54=) rs2100831350
NM_000329.3(RPE65):c.174C>T (p.Tyr58=)
NM_000329.3(RPE65):c.180G>C (p.Leu60=) rs2100831297
NM_000329.3(RPE65):c.198C>T (p.Leu66=)
NM_000329.3(RPE65):c.199C>T (p.Leu67=) rs1219400458
NM_000329.3(RPE65):c.213C>T (p.Asp71=) rs1297442944
NM_000329.3(RPE65):c.219A>G (p.Lys73=)
NM_000329.3(RPE65):c.225A>G (p.Gly75=)
NM_000329.3(RPE65):c.225A>T (p.Gly75=)
NM_000329.3(RPE65):c.234A>G (p.Thr78=)
NM_000329.3(RPE65):c.240C>T (p.His80=)
NM_000329.3(RPE65):c.243A>G (p.Arg81=)
NM_000329.3(RPE65):c.245+11del
NM_000329.3(RPE65):c.245+18G>A
NM_000329.3(RPE65):c.245+7C>G
NM_000329.3(RPE65):c.246-12A>G
NM_000329.3(RPE65):c.246-24_246-20del rs752554231
NM_000329.3(RPE65):c.24T>C (p.Pro8=) rs2100834378
NM_000329.3(RPE65):c.252C>A (p.Ile84=) rs1645931175
NM_000329.3(RPE65):c.270A>G (p.Val90=)
NM_000329.3(RPE65):c.291G>A (p.Arg97=) rs754533608
NM_000329.3(RPE65):c.294C>A (p.Ile98=) rs367983478
NM_000329.3(RPE65):c.294C>T (p.Ile98=) rs367983478
NM_000329.3(RPE65):c.297C>T (p.Val99=) rs2100828363
NM_000329.3(RPE65):c.303A>G (p.Thr101=) rs2100828338
NM_000329.3(RPE65):c.318T>C (p.Cys106=)
NM_000329.3(RPE65):c.353+10C>T rs2100828143
NM_000329.3(RPE65):c.353+11C>G
NM_000329.3(RPE65):c.353+14A>C
NM_000329.3(RPE65):c.353+15A>G
NM_000329.3(RPE65):c.353+20A>T
NM_000329.3(RPE65):c.353+8A>C
NM_000329.3(RPE65):c.353+8A>G rs1645929465
NM_000329.3(RPE65):c.354-10G>T
NM_000329.3(RPE65):c.354-15C>T
NM_000329.3(RPE65):c.366C>T (p.Tyr122=) rs1479443954
NM_000329.3(RPE65):c.372A>C (p.Arg124=) rs2100827903
NM_000329.3(RPE65):c.390C>T (p.Asp130=) rs2100827854
NM_000329.3(RPE65):c.414A>C (p.Pro138=) rs777483146
NM_000329.3(RPE65):c.417G>T (p.Val139=) rs536073181
NM_000329.3(RPE65):c.420G>A (p.Gly140=) rs1571170264
NM_000329.3(RPE65):c.435T>C (p.Ala145=) rs2100827657
NM_000329.3(RPE65):c.447C>A (p.Thr149=)
NM_000329.3(RPE65):c.447C>T (p.Thr149=) rs750892483
NM_000329.3(RPE65):c.456T>C (p.Ile152=)
NM_000329.3(RPE65):c.459A>C (p.Thr153=)
NM_000329.3(RPE65):c.471A>T (p.Pro157=)
NM_000329.3(RPE65):c.495+12T>C
NM_000329.3(RPE65):c.495+13G>A
NM_000329.3(RPE65):c.495+7C>T
NM_000329.3(RPE65):c.495+8A>G rs780898366
NM_000329.3(RPE65):c.496-12T>C
NM_000329.3(RPE65):c.496-19A>G
NM_000329.3(RPE65):c.498T>C (p.Val166=)
NM_000329.3(RPE65):c.501T>C (p.Asp167=) rs2100821961
NM_000329.3(RPE65):c.513T>C (p.Tyr171=)
NM_000329.3(RPE65):c.528G>A (p.Gly176=)
NM_000329.3(RPE65):c.528G>C (p.Gly176=)
NM_000329.3(RPE65):c.576T>C (p.Ile192=) rs747122876
NM_000329.3(RPE65):c.579T>G (p.Gly193=) rs2100821713
NM_000329.3(RPE65):c.609C>T (p.Ala203=) rs61752886
NM_000329.3(RPE65):c.612C>T (p.Tyr204=) rs1557600983
NM_000329.3(RPE65):c.627C>A (p.Ile209=) rs1408756289
NM_000329.3(RPE65):c.633A>G (p.Pro211=)
NM_000329.3(RPE65):c.636G>A (p.Leu212=)
NM_000329.3(RPE65):c.643+15C>A
NM_000329.3(RPE65):c.643+18T>C
NM_000329.3(RPE65):c.643+19C>A
NM_000329.3(RPE65):c.643+20C>T
NM_000329.3(RPE65):c.643+9del
NM_000329.3(RPE65):c.644-13C>T
NM_000329.3(RPE65):c.644-14C>G rs1645886573
NM_000329.3(RPE65):c.644-14C>T
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000329.3(RPE65):c.644-7A>C
NM_000329.3(RPE65):c.644-9T>G rs2100819936
NM_000329.3(RPE65):c.645C>T (p.Asp215=) rs1202083660
NM_000329.3(RPE65):c.64C>T (p.Leu22=) rs754228407
NM_000329.3(RPE65):c.675C>T (p.Ile225=) rs114379164
NM_000329.3(RPE65):c.678T>C (p.Val226=)
NM_000329.3(RPE65):c.690C>T (p.Pro230=)
NM_000329.3(RPE65):c.69C>T (p.Ser23=) rs1645959675
NM_000329.3(RPE65):c.708G>A (p.Lys236=) rs2100819732
NM_000329.3(RPE65):c.711A>G (p.Pro237=)
NM_000329.3(RPE65):c.714T>C (p.Ser238=) rs1159440503
NM_000329.3(RPE65):c.723T>C (p.His241=)
NM_000329.3(RPE65):c.725+12G>T
NM_000329.3(RPE65):c.725+19A>G
NM_000329.3(RPE65):c.725+20T>C
NM_000329.3(RPE65):c.725+8G>A rs1286528844
NM_000329.3(RPE65):c.725+8G>C rs1286528844
NM_000329.3(RPE65):c.725+9A>G rs111518661
NM_000329.3(RPE65):c.726-13T>C
NM_000329.3(RPE65):c.726-16T>C rs2100819317
NM_000329.3(RPE65):c.726-17T>C
NM_000329.3(RPE65):c.726-20C>T
NM_000329.3(RPE65):c.72G>A (p.Ser24=) rs1282164855
NM_000329.3(RPE65):c.72G>C (p.Ser24=) rs1282164855
NM_000329.3(RPE65):c.72G>T (p.Ser24=)
NM_000329.3(RPE65):c.735G>C (p.Leu245=) rs2100819271
NM_000329.3(RPE65):c.744C>T (p.Asn248=) rs1343005273
NM_000329.3(RPE65):c.768A>C (p.Pro256=)
NM_000329.3(RPE65):c.786C>T (p.Phe262=)
NM_000329.3(RPE65):c.78C>T (p.Leu26=)
NM_000329.3(RPE65):c.798T>A (p.Ser266=) rs1645882700
NM_000329.3(RPE65):c.819C>T (p.Ala273=) rs2100819102
NM_000329.3(RPE65):c.84T>C (p.Ala28=)
NM_000329.3(RPE65):c.852C>T (p.Thr284=)
NM_000329.3(RPE65):c.858+10A>C rs2100818982
NM_000329.3(RPE65):c.858+13T>C rs2100818973
NM_000329.3(RPE65):c.858+14A>G
NM_000329.3(RPE65):c.858+15T>C
NM_000329.3(RPE65):c.859-13C>T
NM_000329.3(RPE65):c.859-17T>G rs1418885901
NM_000329.3(RPE65):c.859-19A>G
NM_000329.3(RPE65):c.859-4C>G rs1571165470
NM_000329.3(RPE65):c.879C>T (p.Asp293=)
NM_000329.3(RPE65):c.87T>C (p.His29=)
NM_000329.3(RPE65):c.882A>G (p.Lys294=) rs1381189679
NM_000329.3(RPE65):c.885A>G (p.Lys295=)
NM_000329.3(RPE65):c.90A>G (p.Val30=) rs2100834158
NM_000329.3(RPE65):c.94+10G>C
NM_000329.3(RPE65):c.94+10G>T rs777879312
NM_000329.3(RPE65):c.94+11C>A
NM_000329.3(RPE65):c.94+13C>T
NM_000329.3(RPE65):c.94+14A>G
NM_000329.3(RPE65):c.94+15T>C
NM_000329.3(RPE65):c.94+17T>A
NM_000329.3(RPE65):c.94+18T>G rs748142481
NM_000329.3(RPE65):c.94+9C>T rs747174742
NM_000329.3(RPE65):c.945C>T (p.Ile315=)
NM_000329.3(RPE65):c.948C>T (p.Asn316=) rs2100818448
NM_000329.3(RPE65):c.95-12C>A
NM_000329.3(RPE65):c.95-13C>T
NM_000329.3(RPE65):c.95-14C>G
NM_000329.3(RPE65):c.95-14C>T
NM_000329.3(RPE65):c.95-15_95-13dup
NM_000329.3(RPE65):c.95-18G>C
NM_000329.3(RPE65):c.95-5C>T rs2100831568
NM_000329.3(RPE65):c.95-8C>T
NM_000329.3(RPE65):c.951C>T (p.Thr317=) rs1645880052
NM_000329.3(RPE65):c.954T>C (p.Tyr318=) rs1444997062
NM_000329.3(RPE65):c.960C>T (p.Asp320=)
NM_000329.3(RPE65):c.963T>C (p.Asn321=)
NM_000329.3(RPE65):c.966G>A (p.Gly322=) rs1400399381
NM_000329.3(RPE65):c.96C>G (p.Gly32=) rs2100831551
NM_000329.3(RPE65):c.972G>C (p.Leu324=)
NM_000329.3(RPE65):c.972G>T (p.Leu324=) rs2100818359
NM_000329.3(RPE65):c.975T>C (p.Ile325=) rs761227832
NM_000329.3(RPE65):c.981T>C (p.Asp327=) rs2100818330
NM_000329.3(RPE65):c.996A>G (p.Lys332=) rs2100818284
NM_000329.3(RPE65):c.998+11A>G
NM_000329.3(RPE65):c.998+12C>T
NM_000329.3(RPE65):c.998+13A>C
NM_000329.3(RPE65):c.998+15T>C
NM_000329.3(RPE65):c.998+16G>A
NM_000329.3(RPE65):c.998+20A>G
NM_000329.3(RPE65):c.999-10_999-9del rs2100817210
NM_000329.3(RPE65):c.999-12T>C
NM_000329.3(RPE65):c.999-17A>G
NM_000329.3(RPE65):c.999-7T>C
NM_000329.3(RPE65):c.99G>A (p.Arg33=)

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