ClinVar Miner

List of variants reported as uncertain significance for Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003718.5(CDK13):c.509C>T (p.Ala170Val)	rs1029840854	0.00002
NM_003718.5(CDK13):c.484dup (p.Ala162fs)	rs1405252481

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