ClinVar Miner

List of variants in gene RPE65 studied for Leber congenital amaurosis

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
NM_000329.2(RPE65):c.644-43delA rs61752894
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.*588C>A rs541546843
NM_000329.3(RPE65):c.*611G>A rs2182315
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.*760A>C rs886046508
NM_000329.3(RPE65):c.*915C>G rs3118416
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.1087C>A (p.Pro363Thr) rs121917744
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.1155G>A (p.Thr385=) rs62653014
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)
NM_000329.3(RPE65):c.1243+10T>C rs548537552
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys) rs62636300
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.1338+20A>C rs12564647
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser) rs1420672586
NM_000329.3(RPE65):c.1386G>A (p.Glu462=) rs886046509
NM_000329.3(RPE65):c.1399C>T (p.Pro467Ser) rs1395763356
NM_000329.3(RPE65):c.1451-2A>C rs1557595199
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745
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.242G>T (p.Arg81Ile) rs1429137932
NM_000329.3(RPE65):c.267C>T (p.Tyr89=) rs372620785
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000329.3(RPE65):c.361dup (p.Ser121fs) rs121918844
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu) rs1191496583
NM_000329.3(RPE65):c.48T>C (p.Phe16=) rs62642581
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000329.3(RPE65):c.644-42del rs61752893
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.715T>G (p.Tyr239Asp) rs61752896
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr) rs61752901
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter) rs61752904
NM_000329.3(RPE65):c.95-2A>T rs61751279
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)

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