ClinVar Miner

List of variants in gene RPE65 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.399T>C (p.Leu133=) rs59257923 0.00728
NM_000329.3(RPE65):c.*339A>G rs74084043 0.00496
NM_000329.3(RPE65):c.*192A>G rs142768806 0.00291
NM_000329.3(RPE65):c.*511G>A rs149449684 0.00214
NM_000329.3(RPE65):c.978G>T (p.Val326=) rs61752907 0.00186
NM_000329.3(RPE65):c.1129-14A>G rs113329701 0.00086
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.*588C>A rs541546843 0.00048
NM_000329.3(RPE65):c.102C>A (p.Ile34=) rs146357166 0.00034
NM_000329.3(RPE65):c.*886T>C rs111811751 0.00019
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.859-11C>T rs369772824 0.00010
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) rs201379753 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000329.3(RPE65):c.295G>A (p.Val99Ile) rs143056561 0.00009
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser) rs201075875 0.00009
NM_000329.3(RPE65):c.1070C>A (p.Ala357Asp) rs187198628 0.00008
NM_000329.3(RPE65):c.253C>T (p.Arg85Cys) rs763317722 0.00008
NM_000329.3(RPE65):c.95-10T>A rs547374432 0.00007
NM_000329.3(RPE65):c.1238G>A (p.Arg413His) rs200950327 0.00006
NM_000329.3(RPE65):c.565G>A (p.Val189Ile) rs752990312 0.00005
NM_000329.3(RPE65):c.*517G>A rs574708413 0.00004
NM_000329.3(RPE65):c.1129-5C>T rs368533067 0.00004
NM_000329.3(RPE65):c.845A>G (p.Asn282Ser) rs144612129 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.224G>A (p.Gly75Glu) rs201062742 0.00003
NM_000329.3(RPE65):c.*560C>T rs1045301005 0.00002
NM_000329.3(RPE65):c.1243+10T>C rs548537552 0.00002
NM_000329.3(RPE65):c.807T>C (p.Ser269=) rs774896870 0.00002
NM_000329.3(RPE65):c.*546A>C rs1462746486 0.00001
NM_000329.3(RPE65):c.*554C>T rs1645802843 0.00001
NM_000329.3(RPE65):c.267C>T (p.Tyr89=) rs372620785 0.00001
NM_000329.3(RPE65):c.375A>G (p.Gly125=) rs992113946 0.00001
NM_000329.3(RPE65):c.474G>C (p.Glu158Asp) rs1645927491 0.00001
NM_000329.3(RPE65):c.576T>A (p.Ile192=) rs747122876 0.00001
NM_000329.3(RPE65):c.701G>A (p.Arg234Gln) rs577193739 0.00001
NM_000329.3(RPE65):c.783G>T (p.Leu261=) rs188493184 0.00001
NM_000329.3(RPE65):c.858+6T>C rs764221382 0.00001
NM_000329.3(RPE65):c.920C>T (p.Ser307Phe) rs1261473838 0.00001
NM_000329.3(RPE65):c.975T>G (p.Ile325Met) rs761227832 0.00001
NM_000329.3(RPE65):c.*128G>A rs1385513974
NM_000329.3(RPE65):c.*424C>A rs1645803830
NM_000329.3(RPE65):c.*630C>T rs1645802157
NM_000329.3(RPE65):c.*735del rs577675068
NM_000329.3(RPE65):c.*760A>C rs886046508
NM_000329.3(RPE65):c.*946C>T rs1645800007
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) rs1645824187
NM_000329.3(RPE65):c.1386G>A (p.Glu462=) rs886046509
NM_000329.3(RPE65):c.366C>T (p.Tyr122=) rs1479443954
NM_000329.3(RPE65):c.395C>T (p.Ala132Val) rs1276965909
NM_000329.3(RPE65):c.432C>T (p.Tyr144=) rs56021047
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) rs886046510
NM_000329.3(RPE65):c.718G>A (p.Val240Ile) rs192907397

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