ClinVar Miner

List of variants studied for acroosteolysis-keloid-like lesions-premature aging syndrome by Genome-Nilou Lab

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.364+44C>T rs740750 0.47472
NM_002609.4(PDGFRB):c.3137+4A>G rs246391 0.38064
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) rs246388 0.36918
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) rs246395 0.26470
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) rs2228440 0.09078

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