ClinVar Miner

List of variants in gene PDGFRA reported by OMIM

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met) rs397514550 0.00034
NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala) rs181854060 0.00012
NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp) rs397514549 0.00010
NM_006206.6(PDGFRA):c.1664A>G (p.Tyr555Cys) rs121908589
NM_006206.6(PDGFRA):c.1679_1693del (p.Arg560_Ser564del) rs587776795
NM_006206.6(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg) rs587776794
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) rs121908586
NM_006206.6(PDGFRA):c.1696_1713del (p.Ser566_Glu571del) rs606231209
NM_006206.6(PDGFRA):c.1957_1958delinsTT (p.Pro653Leu)
NM_006206.6(PDGFRA):c.2021C>T (p.Thr674Ile) rs121908587
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.2533_2544del (p.His845_Asn848del) rs587776793
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588
NM_006206.6(PDGFRA):c.2537A>T (p.Asp846Val)

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