ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 12 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001164688.2(RD3):c.-377G>A rs17017574 0.01053
NM_001164688.2(RD3):c.139C>T (p.Arg47Cys) rs34049451 0.00854
NM_183059.2(RD3):c.-1034G>A rs146780723 0.00737
NM_183059.2(RD3):c.-495T>G rs147349161 0.00654
NM_183059.2(RD3):c.-1106G>A rs113845279 0.00550
NM_001164688.2(RD3):c.*1553C>T rs533275364 0.00423
NM_001164688.2(RD3):c.*1712G>A rs190357778 0.00300
NM_001164688.2(RD3):c.*2247A>T rs190235544 0.00273
NM_001164688.2(RD3):c.*2464C>T rs557944408 0.00227
NM_001164688.2(RD3):c.*1672C>T rs544513757 0.00192
NM_001164688.2(RD3):c.*1108C>T rs151010298 0.00170
NM_001164688.2(RD3):c.494A>C (p.Asp165Ala) rs149051185 0.00158
NM_001164688.2(RD3):c.-340G>A rs376931725 0.00108
NM_183059.2(RD3):c.-1052C>A rs187461760 0.00094
NM_001164688.2(RD3):c.*1310G>A rs193253076 0.00083
NM_183059.2(RD3):c.-925G>A rs182459299 0.00081
NM_001164688.2(RD3):c.*1983C>T rs143085760 0.00067
NM_001164688.2(RD3):c.519G>A (p.Val173=) rs139419737 0.00062
NM_001164688.2(RD3):c.-341C>T rs532622973 0.00050
NM_001164688.2(RD3):c.259A>G (p.Lys87Glu) rs200585050 0.00040
NM_001164688.2(RD3):c.*1277G>A rs184525191 0.00036
NM_001164688.2(RD3):c.*213C>T rs745612746 0.00035
NM_001164688.2(RD3):c.*1342T>G rs780834996 0.00029
NM_001164688.2(RD3):c.*738T>C rs886045897 0.00029
NM_183059.2(RD3):c.-556G>A rs181065744 0.00026
NM_183059.2(RD3):c.-640G>A rs190249862 0.00024
NM_001164688.2(RD3):c.*1287T>C rs748989370 0.00019
NM_001164688.2(RD3):c.*592C>A rs866479535 0.00019
NM_001164688.2(RD3):c.-356C>T rs77237846 0.00019
NM_001164688.2(RD3):c.*1652C>T rs184074454 0.00015
NM_001164688.2(RD3):c.*814C>A rs369781019 0.00011
NM_001164688.2(RD3):c.*2311C>T rs766209664 0.00009
NM_001164688.2(RD3):c.*2402A>G rs886045888 0.00006
NM_183059.2(RD3):c.-504G>A rs886045918 0.00006
NM_001164688.2(RD3):c.-188G>A rs551882177 0.00005
NM_001164688.2(RD3):c.-189C>T rs573005358 0.00005
NM_001164688.2(RD3):c.134G>A (p.Arg45Gln) rs146921079 0.00005
NM_001164688.2(RD3):c.*882C>T rs760692968 0.00004
NM_001164688.2(RD3):c.233G>A (p.Arg78Gln) rs199896612 0.00004
NM_001164688.2(RD3):c.*2481A>T rs373654186 0.00003
NM_001164688.2(RD3):c.-139C>T rs886045902 0.00003
NM_001164688.2(RD3):c.-25G>A rs886045901 0.00003
NM_001164688.2(RD3):c.150G>A (p.Ala50=) rs751609154 0.00003
NM_001164688.2(RD3):c.527A>G (p.Asp176Gly) rs775663367 0.00003
NM_001164688.2(RD3):c.*44G>A rs1483915177 0.00002
NM_001164688.2(RD3):c.-355G>A rs886045917 0.00002
NM_001164688.2(RD3):c.102G>A (p.Thr34=) rs199511076 0.00002
NM_001164688.2(RD3):c.*1555T>C rs886045895 0.00001
NM_001164688.2(RD3):c.*1634G>A rs886045893 0.00001
NM_001164688.2(RD3):c.*2081C>T rs886045892 0.00001
NM_001164688.2(RD3):c.*2098G>A rs886045891 0.00001
NM_001164688.2(RD3):c.*2138T>C rs886045890 0.00001
NM_001164688.2(RD3):c.*2317G>A rs886045889 0.00001
NM_001164688.2(RD3):c.*2330C>T rs1007517182 0.00001
NM_001164688.2(RD3):c.*2451A>C rs567341266 0.00001
NM_001164688.2(RD3):c.*263T>G rs1558178563 0.00001
NM_001164688.2(RD3):c.*330G>C rs1292806853 0.00001
NM_001164688.2(RD3):c.*590T>C rs886045898 0.00001
NM_001164688.2(RD3):c.*591T>A rs913071969 0.00001
NM_001164688.2(RD3):c.182G>A (p.Ser61Asn) rs775226280 0.00001
NM_001164688.2(RD3):c.227T>C (p.Ile76Thr) rs752858252 0.00001
NM_001164688.2(RD3):c.493G>A (p.Asp165Asn) rs746738197 0.00001
NM_183059.2(RD3):c.-1120G>A rs886045920 0.00001
NM_183059.2(RD3):c.-1160T>C rs952170950 0.00001
NM_001164688.2(RD3):c.*1005C>G rs1705179441
NM_001164688.2(RD3):c.*1323G>A rs1705172696
NM_001164688.2(RD3):c.*2007G>A rs1027456684
NM_001164688.2(RD3):c.*527G>C rs886045899
NM_001164688.2(RD3):c.-12+10A>C rs886045900
NM_001164688.2(RD3):c.-138C>A rs368463447
NM_001164688.2(RD3):c.-138C>G rs368463447
NM_001164688.2(RD3):c.-291T>C rs886045906
NM_001164688.2(RD3):c.-296A>C rs989943339
NM_001164688.2(RD3):c.-302A>C rs886045912
NM_001164688.2(RD3):c.-304A>C rs866406243
NM_001164688.2(RD3):c.-329C>T rs886045913
NM_001164688.2(RD3):c.-332A>G rs886045914
NM_001164688.2(RD3):c.468C>T (p.Arg156=) rs148189077
NM_001164688.2(RD3):c.545G>A (p.Arg182Gln) rs747890482
NM_183059.2(RD3):c.-1118A>T rs748107586
NM_183059.2(RD3):c.-505C>T rs570507460
NM_183059.2(RD3):c.-539G>T rs143497175
NM_183059.2(RD3):c.-572G>A rs139370470
NM_183059.2(RD3):c.-712G>C rs886045919
NM_183059.2(RD3):c.-714G>C rs561881146
NM_183059.2(RD3):c.-771G>T rs1705514729
NM_183059.2(RD3):c.-884C>A rs781387518

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