ClinVar Miner

List of variants in gene RPE65 studied for Retinal dystrophy

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.1056G>A (p.Glu352=) rs12145904 0.15903
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter) rs61752877 0.00013
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543 0.00012
NM_000329.3(RPE65):c.1154C>T (p.Thr385Met) rs201379753 0.00009
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_000329.3(RPE65):c.1238G>A (p.Arg413His) rs200950327 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000329.3(RPE65):c.565G>A (p.Val189Ile) rs752990312 0.00005
NM_000329.3(RPE65):c.1449T>C (p.Asp483=) rs201116540 0.00004
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr) rs768445391 0.00004
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser) rs61751281 0.00003
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp) rs121917745 0.00003
NM_000329.3(RPE65):c.224G>A (p.Gly75Glu) rs201062742 0.00003
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln) rs62636299 0.00001
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) rs1444234037 0.00001
NM_000329.3(RPE65):c.375A>G (p.Gly125=) rs992113946 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.95-2A>T rs61751279 0.00001
NM_000329.3(RPE65):c.102C>T (p.Ile34=)
NM_000329.3(RPE65):c.1040G>A (p.Arg347His) rs562037932
NM_000329.3(RPE65):c.1067dup (p.Asn356fs) rs281865520
NM_000329.3(RPE65):c.113T>G (p.Leu38Arg) rs1645946362
NM_000329.3(RPE65):c.1150G>T (p.Val384Phe) rs1645826797
NM_000329.3(RPE65):c.1289C>A (p.Pro430His)
NM_000329.3(RPE65):c.1298A>G (p.Tyr433Cys) rs147206805
NM_000329.3(RPE65):c.1309C>T (p.Leu437Phe) rs1645824260
NM_000329.3(RPE65):c.1408C>T (p.Pro470Ser)
NM_000329.3(RPE65):c.1420T>G (p.Ser474Ala)
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
NM_000329.3(RPE65):c.1484C>A (p.Ala495Glu)
NM_000329.3(RPE65):c.317G>A (p.Cys106Tyr)
NM_000329.3(RPE65):c.331C>A (p.Pro111Thr) rs886042220
NM_000329.3(RPE65):c.377T>C (p.Val126Ala)
NM_000329.3(RPE65):c.575T>G (p.Ile192Ser)
NM_000329.3(RPE65):c.57_58del (p.Glu20fs) rs62642582
NM_000329.3(RPE65):c.619G>C (p.Val207Leu)
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) rs886046510
NM_000329.3(RPE65):c.709C>T (p.Pro237Ser)
NM_000329.3(RPE65):c.725G>A (p.Ser242Asn)
NM_000329.3(RPE65):c.726-2A>C rs878853372
NM_000329.3(RPE65):c.893del (p.Lys298fs) rs61752902
NM_000329.3(RPE65):c.962dup (p.Asn321fs) rs61752906

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