ClinVar Miner

List of variants in gene RD3 reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP
NM_183059.2(RD3):c.*1108C>T rs151010298
NM_183059.2(RD3):c.*1277G>A rs184525191
NM_183059.2(RD3):c.*1281G>A rs73072853
NM_183059.2(RD3):c.*1287T>C rs748989370
NM_183059.2(RD3):c.*1305delA rs886045896
NM_183059.2(RD3):c.*1342T>G rs780834996
NM_183059.2(RD3):c.*1555T>C rs886045895
NM_183059.2(RD3):c.*1582delT rs879756831
NM_183059.2(RD3):c.*1582dupT rs879756831
NM_183059.2(RD3):c.*1583delG rs775682217
NM_183059.2(RD3):c.*1634G>A rs886045893
NM_183059.2(RD3):c.*1652C>T rs184074454
NM_183059.2(RD3):c.*1672C>T rs544513757
NM_183059.2(RD3):c.*1983C>T rs143085760
NM_183059.2(RD3):c.*2081C>T rs886045892
NM_183059.2(RD3):c.*2098G>A rs886045891
NM_183059.2(RD3):c.*2138T>C rs886045890
NM_183059.2(RD3):c.*2311C>T rs766209664
NM_183059.2(RD3):c.*2317G>A rs886045889
NM_183059.2(RD3):c.*2402A>G rs886045888
NM_183059.2(RD3):c.*2481A>T rs373654186
NM_183059.2(RD3):c.*2503G>T rs41309617
NM_183059.2(RD3):c.*527G>C rs886045899
NM_183059.2(RD3):c.*590T>C rs886045898
NM_183059.2(RD3):c.*738T>C rs886045897
NM_183059.2(RD3):c.*882C>T rs760692968
NM_183059.2(RD3):c.-1034G>A rs146780723
NM_183059.2(RD3):c.-1052C>A rs187461760
NM_183059.2(RD3):c.-1118A>T rs748107586
NM_183059.2(RD3):c.-1120G>A rs886045920
NM_183059.2(RD3):c.-142C>T rs886045902
NM_183059.2(RD3):c.-15+10A>C rs886045900
NM_183059.2(RD3):c.-167_-166delGA rs886045903
NM_183059.2(RD3):c.-191G>A rs551882177
NM_183059.2(RD3):c.-192C>T rs573005358
NM_183059.2(RD3):c.-28G>A rs886045901
NM_183059.2(RD3):c.-294T>C rs886045906
NM_183059.2(RD3):c.-295_-294delCT rs1553282313
NM_183059.2(RD3):c.-296_-295dupCC rs1491560139
NM_183059.2(RD3):c.-297A>C rs202137622
NM_183059.2(RD3):c.-297_-296delAC rs34485370
NM_183059.2(RD3):c.-297_-296dupAC rs34485370
NM_183059.2(RD3):c.-299_-296delACAC rs34485370
NM_183059.2(RD3):c.-299_-296dupACAC rs34485370
NM_183059.2(RD3):c.-301_-296delACACAC rs34485370
NM_183059.2(RD3):c.-305A>C rs886045912
NM_183059.2(RD3):c.-305_-297delACACACACAinsC rs886045910
NM_183059.2(RD3):c.-307A>C rs866406243
NM_183059.2(RD3):c.-307_-296delACACACACACAC rs34485370
NM_183059.2(RD3):c.-307_-297delACACACACACAinsC rs886045911
NM_183059.2(RD3):c.-332C>T rs886045913
NM_183059.2(RD3):c.-335A>G rs886045914
NM_183059.2(RD3):c.-340_-339delTA rs886045915
NM_183059.2(RD3):c.-343G>A rs376931725
NM_183059.2(RD3):c.-343_-340delGCAT rs886045916
NM_183059.2(RD3):c.-344C>T rs532622973
NM_183059.2(RD3):c.-358G>A rs886045917
NM_183059.2(RD3):c.-359C>T rs77237846
NM_183059.2(RD3):c.-495T>G rs147349161
NM_183059.2(RD3):c.-504G>A rs886045918
NM_183059.2(RD3):c.-505C>T rs570507460
NM_183059.2(RD3):c.-539G>T rs143497175
NM_183059.2(RD3):c.-556G>A rs181065744
NM_183059.2(RD3):c.-572G>A rs139370470
NM_183059.2(RD3):c.-640G>A rs190249862
NM_183059.2(RD3):c.-712G>C rs886045919
NM_183059.2(RD3):c.-714G>C rs561881146
NM_183059.2(RD3):c.-884C>A rs781387518
NM_183059.2(RD3):c.-925G>A rs182459299
NM_183059.2(RD3):c.134G>A (p.Arg45Gln) rs146921079
NM_183059.2(RD3):c.227T>C (p.Ile76Thr) rs752858252
NM_183059.2(RD3):c.233G>A (p.Arg78Gln) rs199896612
NM_183059.2(RD3):c.259A>G (p.Lys87Glu) rs200585050
NM_183059.2(RD3):c.468C>T (p.Arg156=) rs148189077
NM_183059.2(RD3):c.493G>A (p.Asp165Asn) rs746738197
NM_183059.2(RD3):c.527A>G (p.Asp176Gly) rs775663367
NM_183059.2(RD3):c.545G>A (p.Arg182Gln) rs747890482

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