ClinVar Miner

List of variants reported as pathogenic for Premature aging syndrome, Penttinen type; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Kosaki overgrowth syndrome

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Total variants: 1
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HGVS dbSNP
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286

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