ClinVar Miner

List of variants studied for Leber congenital amaurosis 6 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
NM_020366.4(RPGRIP1):c.487del (p.Arg163fs)

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