ClinVar Miner

List of variants reported as likely pathogenic for Global developmental delay; Typical Joubert syndrome MRI findings

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Total variants: 4
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HGVS dbSNP
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_017990.4(PDPR):c.1360G>T (p.Gly454Cys) rs202246074
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217

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