ClinVar Miner

List of variants in gene PDGFRA reported by Database of Curated Mutations (DoCM)

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) rs121908586
NM_006206.6(PDGFRA):c.1682T>C (p.Val561Ala) rs121908586
NM_006206.6(PDGFRA):c.1729C>T (p.Pro577Ser) rs1057519811
NM_006206.6(PDGFRA):c.1973T>C (p.Val658Ala) rs1057519812
NM_006206.6(PDGFRA):c.1977C>A (p.Asn659Lys) rs1057519700
NM_006206.6(PDGFRA):c.1977C>G (p.Asn659Lys) rs1057519700
NM_006206.6(PDGFRA):c.2522G>A (p.Arg841Lys) rs1057519813
NM_006206.6(PDGFRA):c.2522_2527del (p.Arg841_Asp842del) rs121913269
NM_006206.6(PDGFRA):c.2524G>T (p.Asp842Tyr) rs121913265
NM_006206.6(PDGFRA):c.2524_2525delinsAT (p.Asp842Ile) rs121913264
NM_006206.6(PDGFRA):c.2524_2532del (p.Asp842_Met844del) rs121913262
NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val) rs121908585
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) rs1553906053
NM_006206.6(PDGFRA):c.2527_2538del (p.Ile843_Asp846del) rs121913267
NM_006206.6(PDGFRA):c.2533C>T (p.His845Tyr) rs1057519814
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588
NM_006206.6(PDGFRA):c.2558G>A (p.Gly853Asp) rs763576329

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