ClinVar Miner

List of variants reported as uncertain significance for acroosteolysis-keloid-like lesions-premature aging syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys)	rs765124485	0.00002
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met)	rs138830253	0.00001
NM_002609.4(PDGFRB):c.1388C>T (p.Pro463Leu)

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