ClinVar Miner

List of variants reported as likely pathogenic for Global developmental delay; Abnormality of cardiovascular system morphology; Abnormal facial shape; Brainstem dysplasia

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Total variants: 2
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NM_019108.4(SMG9):c.520_521del (p.Pro174fs) rs869312741
NM_019108.4(SMG9):c.701+4A>G rs869312742

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