ClinVar Miner

List of variants studied for Joubert syndrome 5 by Baylor Genetics

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Total variants: 4
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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.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366

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