ClinVar Miner

List of variants in gene RPE65 studied for Leber congenital amaurosis

Included ClinVar conditions (41):
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Gene type:
ClinVar version:
Total variants: 152
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HGVS dbSNP
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.3(RPE65):c.*128G>A
NM_000329.3(RPE65):c.*192A>G
NM_000329.3(RPE65):c.*339A>G
NM_000329.3(RPE65):c.*341T>C
NM_000329.3(RPE65):c.*424C>A
NM_000329.3(RPE65):c.*511G>A rs149449684
NM_000329.3(RPE65):c.*517G>A rs574708413
NM_000329.3(RPE65):c.*531A>G rs3118418
NM_000329.3(RPE65):c.*546A>C
NM_000329.3(RPE65):c.*554C>T
NM_000329.3(RPE65):c.*560C>T
NM_000329.3(RPE65):c.*588C>A rs541546843
NM_000329.3(RPE65):c.*611G>A rs2182315
NM_000329.3(RPE65):c.*630C>T
NM_000329.3(RPE65):c.*680G>A
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.*760A>C rs886046508
NM_000329.3(RPE65):c.*886T>C
NM_000329.3(RPE65):c.*915C>G rs3118416
NM_000329.3(RPE65):c.*946C>T
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val) rs1571164534
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909
NM_000329.3(RPE65):c.102C>A (p.Ile34=) rs146357166
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904
NM_000329.3(RPE65):c.1067del (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp)
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr) rs121917744
NM_000329.3(RPE65):c.1098G>A (p.Arg366=) rs764589805
NM_000329.3(RPE65):c.1098G>C (p.Arg366Ser)
NM_000329.3(RPE65):c.10del (p.Gln4fs) rs747393487
NM_000329.3(RPE65):c.11+5G>A rs61751276
NM_000329.3(RPE65):c.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011
NM_000329.3(RPE65):c.1129-14A>G rs113329701
NM_000329.3(RPE65):c.1129-5C>T
NM_000329.3(RPE65):c.1152C>G (p.Val384=) rs1571158917
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) rs201379753
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014
NM_000329.3(RPE65):c.1169C>T (p.Thr390Ile)
NM_000329.3(RPE65):c.117C>T (p.Thr39=) rs143929144
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys) rs369142161
NM_000329.3(RPE65):c.1238G>A (p.Arg413His)
NM_000329.3(RPE65):c.1243+10T>C rs548537552
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr) rs1571158755
NM_000329.3(RPE65):c.1244-5C>T rs202185816
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys)
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val) rs34627040
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.130C>T (p.Arg44Ter) rs368088025
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln) rs61751282
NM_000329.3(RPE65):c.1322A>G (p.His441Arg)
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala)
NM_000329.3(RPE65):c.1338+1G>A rs1057518922
NM_000329.3(RPE65):c.1338+20A>C rs12564647
NM_000329.3(RPE65):c.1338+8A>G rs777211540
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.1380G>A (p.Trp460Ter)
NM_000329.3(RPE65):c.1386G>A (p.Glu462=) rs886046509
NM_000329.3(RPE65):c.1395A>G (p.Ser465=) rs764923358
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
NM_000329.3(RPE65):c.1435T>C (p.Leu479=) rs373882259
NM_000329.3(RPE65):c.1445A>G (p.Asp482Gly)
NM_000329.3(RPE65):c.1451-2A>C rs1557595199
NM_000329.3(RPE65):c.147_148insCAAA (p.Phe50fs)
NM_000329.3(RPE65):c.1491A>G (p.Gln497=) rs766848627
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser)
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg)
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val) rs1193631220
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
NM_000329.3(RPE65):c.168A>G (p.Pro56=) rs150260489
NM_000329.3(RPE65):c.215T>C (p.Phe72Ser) rs1553153597
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742
NM_000329.3(RPE65):c.227A>C (p.His76Pro) rs1571172233
NM_000329.3(RPE65):c.237C>T (p.Tyr79=) rs371095928
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys)
NM_000329.3(RPE65):c.267C>T (p.Tyr89=) rs372620785
NM_000329.3(RPE65):c.268G>A (p.Val90Ile)
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln) rs61752873
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu)
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile)
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000329.3(RPE65):c.354G>T (p.Arg118Ser)
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.366C>T (p.Tyr122=)
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877
NM_000329.3(RPE65):c.375A>G (p.Gly125=) rs992113946
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.395C>T (p.Ala132Val)
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543
NM_000329.3(RPE65):c.474G>C (p.Glu158Asp)
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.496-4G>A rs138146176
NM_000329.3(RPE65):c.507C>A (p.Cys169Ter)
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu) rs752058510
NM_000329.3(RPE65):c.564C>T (p.Thr188=) rs764476046
NM_000329.3(RPE65):c.565G>A (p.Val189Ile)
NM_000329.3(RPE65):c.576T>A (p.Ile192=)
NM_000329.3(RPE65):c.585C>T (p.Cys195=) rs571111378
NM_000329.3(RPE65):c.621A>G (p.Val207=) rs746032112
NM_000329.3(RPE65):c.624G>A (p.Lys208=) rs1170839612
NM_000329.3(RPE65):c.644-42del rs61752893
NM_000329.3(RPE65):c.644-43del rs61752894
NM_000329.3(RPE65):c.675C>G (p.Ile225Met) rs114379164
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) rs886046510
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln)
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp) rs61752896
NM_000329.3(RPE65):c.718G>A (p.Val240Ile)
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.751G>A (p.Val251Ile)
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.75G>A (p.Pro25=) rs199529021
NM_000329.3(RPE65):c.777T>C (p.Ile259=) rs762186209
NM_000329.3(RPE65):c.783G>T (p.Leu261=) rs188493184
NM_000329.3(RPE65):c.807T>C (p.Ser269=)
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129
NM_000329.3(RPE65):c.858+6T>C
NM_000329.3(RPE65):c.859-11C>T
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000329.3(RPE65):c.886A>C (p.Arg296=) rs1399365841
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe)
NM_000329.3(RPE65):c.942C>T (p.His314=) rs752875512
NM_000329.3(RPE65):c.95-10T>A rs547374432
NM_000329.3(RPE65):c.95-2A>T rs61751279
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr) rs61752908
NM_000329.3(RPE65):c.991_993dup (p.Trp331dup) rs1571165140

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