ClinVar Miner

List of variants reported as likely pathogenic for Pulmonic stenosis; Webbed neck; Downslanted palpebral fissures; Premature birth; Wide intermamillary distance; High forehead; Low-set, posteriorly rotated ears; Ventricular hypertrophy; Neonatal respiratory distress; Ventricular septal defect by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039

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