ClinVar Miner

List of variants in gene PDGFRB reported as pathogenic for acroosteolysis-keloid-like lesions-premature aging syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_002609.4(PDGFRB):c.1679C>T (p.Pro560Leu)
NM_002609.4(PDGFRB):c.1994T>C (p.Val665Ala) rs1554108211
NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu)

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