ClinVar Miner

List of variants studied for Joubert syndrome 23 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00342
NM_001329943.3(KIAA0586):c.250_251del (p.Asn84fs) rs2542458686

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