ClinVar Miner

List of variants reported as uncertain significance by Moosajee Lab, UCL Institute of Ophthalmology

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002242.4(KCNJ13):c.431T>C (p.Leu144Pro) rs1361858388 0.00001
NM_000350.3(ABCA4):c.6820T>A (p.Ter2274Arg) rs1658918432
NM_003865.3(HESX1):c.450C>G (p.Asp150Glu) rs1385826685
NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp) rs1668091920

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