List of variants in gene RD3 studied for Leber congenital amaurosis

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 86

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HGVS	dbSNP
NM_001164688.1(RD3):c.-166_-165GA[1]	rs886045903
NM_001164688.1(RD3):c.-336_-335AC[16]	rs34485370
NM_001164688.1(RD3):c.-336_-335AC[19]	rs34485370
NM_001164688.1(RD3):c.-336_-335AC[20]	rs34485370
NM_001164688.1(RD3):c.-336_-335AC[21]	rs34485370
NM_001164688.1(RD3):c.-336_-335AC[23]	rs34485370
NM_001164688.1(RD3):c.-336_-335AC[24]	rs34485370
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.*1305del	rs886045896
NM_183059.2(RD3):c.1307_1308insCT	rs142577368
NM_183059.2(RD3):c.*1331G>A	rs11119747
NM_183059.2(RD3):c.*1342T>G	rs780834996
NM_183059.2(RD3):c.*1343G>C	rs11119746
NM_183059.2(RD3):c.*1555T>C	rs886045895
NM_183059.2(RD3):c.*1582del	rs879756831
NM_183059.2(RD3):c.*1582dup	rs879756831
NM_183059.2(RD3):c.*1583del	rs775682217
NM_183059.2(RD3):c.*1634G>A	rs886045893
NM_183059.2(RD3):c.*1649T>C	rs12076715
NM_183059.2(RD3):c.*1652C>T	rs184074454
NM_183059.2(RD3):c.*1672C>T	rs544513757
NM_183059.2(RD3):c.*193G>C	rs11119748
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.*368A>T	rs1947058
NM_183059.2(RD3):c.*471C>T	rs34433079
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.-1123T>C	rs10863899
NM_183059.2(RD3):c.-142C>T	rs886045902
NM_183059.2(RD3):c.-15+10A>C	rs886045900
NM_183059.2(RD3):c.-191G>A	rs551882177
NM_183059.2(RD3):c.-192C>T	rs573005358
NM_183059.2(RD3):c.-204_-203insC	rs11463656
NM_183059.2(RD3):c.-28G>A	rs886045901
NM_183059.2(RD3):c.-294T>C	rs886045906
NM_183059.2(RD3):c.-295_-294del	rs1553282313
NM_183059.2(RD3):c.-296_-295dup	rs1491560139
NM_183059.2(RD3):c.-297A>C	rs202137622
NM_183059.2(RD3):c.-305A>C	rs886045912
NM_183059.2(RD3):c.-305_-297delinsC	rs886045910
NM_183059.2(RD3):c.-307A>C	rs866406243
NM_183059.2(RD3):c.-307_-297delinsC	rs886045911
NM_183059.2(RD3):c.-332C>T	rs886045913
NM_183059.2(RD3):c.-335A>G	rs886045914
NM_183059.2(RD3):c.-340_-339del	rs886045915
NM_183059.2(RD3):c.-343G>A	rs376931725
NM_183059.2(RD3):c.-343_-340del	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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