ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NC_000005.9:g.(?_149503793)_(149516630_?)dup
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) rs374802057
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) rs765124485
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys)
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) rs770027941
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn)
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile)
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val)
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys)
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys)
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp)
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)
NM_002609.4(PDGFRB):c.631+1G>A
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) rs1580808180

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