ClinVar Miner

List of variants studied for Joubert syndrome 5 by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys) rs1292516576
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719

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