ClinVar Miner

List of variants in gene RPE65 studied for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs) rs62642583
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.1101A>G (p.Arg367=) rs1553152989
NM_000329.3(RPE65):c.1194C>T (p.Asp398=) rs139640666
NM_000329.3(RPE65):c.1243+10T>C rs548537552
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.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.361dup (p.Ser121fs) rs121918844
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.683A>C (p.Gln228Pro) rs886046510
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832

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