ClinVar Miner

List of variants in gene OPA3 studied for not provided

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Gene type:
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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_025136.4(OPA3):c.*1950G>A rs4404183 0.69999
NM_025136.4(OPA3):c.*152G>A rs3826861 0.66011
NM_025136.4(OPA3):c.*6012A>G rs11083772 0.57481
NM_001017989.3(OPA3):c.143-16698C>A rs11672063 0.43859
NM_001017989.3(OPA3):c.143-127C>G rs12971437 0.37215
NM_025136.4(OPA3):c.*638T>A rs150575877 0.13416
NM_001017989.3(OPA3):c.143-23_143-22del rs149252540 0.12886
NM_025136.4(OPA3):c.*3212G>A rs79317386 0.11204
NM_001017989.3(OPA3):c.*190A>G rs73568948 0.08035
NM_025136.4(OPA3):c.*577T>C rs112654759 0.06094
NC_000019.10:g.45585093A>T rs58173251 0.05614
NM_025136.4(OPA3):c.*272G>A rs7246349 0.05540
NM_025136.4(OPA3):c.*3038G>A rs73568982 0.05112
NM_025136.4(OPA3):c.*7015G>A rs112948303 0.04300
NM_025136.4(OPA3):c.*6394G>A rs151030695 0.02197
NM_025136.4(OPA3):c.143-174C>T rs34508139 0.01902
NM_025136.4(OPA3):c.*7085A>G rs67373144 0.01608
NM_001017989.3(OPA3):c.143-16757T>C rs115090385 0.01529
NM_025136.4(OPA3):c.*6275T>C rs74689727 0.01461
NM_025136.4(OPA3):c.*1760C>T rs75401979 0.01143
NM_025136.4(OPA3):c.*4794C>T rs114917731 0.01114
NM_025136.4(OPA3):c.*1836C>T rs74717111 0.01070
NM_025136.4(OPA3):c.*3222C>T rs73568980 0.00971
NM_025136.4(OPA3):c.*6294A>C rs114655581 0.00810
NM_025136.4(OPA3):c.*1855T>C rs146599259 0.00697
NM_025136.4(OPA3):c.*5905G>A rs116705343 0.00675
NM_025136.4(OPA3):c.142+81T>C rs113539314 0.00669
NM_025136.4(OPA3):c.*2696C>G rs148705681 0.00585
NM_025136.4(OPA3):c.*362T>C rs73942919 0.00539
NM_025136.4(OPA3):c.*5365C>T rs73568970 0.00529
NM_025136.4(OPA3):c.*6442A>G rs76825983 0.00518
NM_025136.4(OPA3):c.*1642A>G rs144894771 0.00484
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_025136.4(OPA3):c.*4954C>T rs146646433 0.00462
NM_025136.4(OPA3):c.*6208C>T rs139798464 0.00458
NC_000019.10:g.45584961T>C rs115153567 0.00441
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*6101A>G rs187296782 0.00363
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522 0.00158
NM_025136.4(OPA3):c.*3360G>A rs545764728 0.00156
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109 0.00135
NM_025136.4(OPA3):c.249G>C (p.Leu83=) rs199692583 0.00080
NM_025136.4(OPA3):c.143-7C>T rs375551151 0.00036
NM_001017989.3(OPA3):c.486C>T (p.His162=) rs201078416 0.00022
NM_001017989.3(OPA3):c.258G>C (p.Glu86Asp) rs202205093 0.00014
NM_001017989.3(OPA3):c.*2A>T rs190812374 0.00009
NM_001017989.3(OPA3):c.514C>T (p.Pro172Ser) rs201023208 0.00009
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu) rs755348694 0.00004
NM_025136.4(OPA3):c.423G>C (p.Gln141His) rs863224144 0.00004
NM_025136.4(OPA3):c.143-5C>A rs770452409 0.00003
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr) rs186796646 0.00002
NM_025136.4(OPA3):c.519A>G (p.Ala173=) rs1200579847 0.00002
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln) rs779505447 0.00001
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr) rs774281852 0.00001
NM_001017989.3(OPA3):c.331A>G (p.Lys111Glu)
NM_001017989.3(OPA3):c.414G>A (p.Ala138=) rs566450630
NM_001017989.3(OPA3):c.454C>T (p.Leu152=)
NM_025136.4(OPA3):c.*3111AGC[3] rs542311224
NM_025136.4(OPA3):c.*4850_*4852del rs144752998
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*4857_*4858insC
NM_025136.4(OPA3):c.*5809dup rs58766088
NM_025136.4(OPA3):c.*6104_*6105del rs142661638
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_025136.4(OPA3):c.142+4A>T rs765495449
NM_025136.4(OPA3):c.143-13T>G rs1278896715
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.194del (p.Gly65fs) rs2122440638
NM_025136.4(OPA3):c.235C>A (p.Leu79Met)
NM_025136.4(OPA3):c.289C>T (p.Leu97=) rs755295420
NM_025136.4(OPA3):c.311A>C (p.His104Pro)
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.314A>G (p.Gln105Arg) rs1599964580
NM_025136.4(OPA3):c.316G>C (p.Ala106Pro) rs750013718
NM_025136.4(OPA3):c.340G>T (p.Glu114Ter)
NM_025136.4(OPA3):c.389C>T (p.Ala130Val) rs780275755
NM_025136.4(OPA3):c.398_421del (p.Leu133_Val140del) rs1555732873
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro) rs372161100
NM_025136.4(OPA3):c.410A>T (p.Gln137Leu)
NM_025136.4(OPA3):c.411G>T (p.Gln137His) rs1969373503
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro) rs535683352
NM_025136.4(OPA3):c.424G>T (p.Ala142Ser) rs535683352
NM_025136.4(OPA3):c.425C>T (p.Ala142Val) rs2122438899

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