ClinVar Miner

List of variants reported as benign for Joubert syndrome 23 by Genome-Nilou Lab

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97836
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97716
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973

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