ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_183059.2(RD3):c.-1123T>C rs10863899 0.47181
NM_001164688.2(RD3):c.*1649T>C rs12076715 0.18816
NM_001164688.2(RD3):c.*368A>T rs1947058 0.18681
NM_001164688.2(RD3):c.*1343G>C rs11119746 0.18553
NM_001164688.2(RD3):c.*1331G>A rs11119747 0.18548
NM_001164688.2(RD3):c.*471C>T rs34433079 0.16704
NM_001164688.2(RD3):c.*193G>C rs11119748 0.12512
NM_001164688.2(RD3):c.500G>A (p.Arg167Lys) rs74782684 0.01632
NM_001164688.2(RD3):c.84G>A (p.Thr28=) rs61740158 0.00932

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