ClinVar Miner

List of variants in gene PDGFRA reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207 0.01633
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_006206.6(PDGFRA):c.2291G>A (p.Arg764His) rs141047712 0.00015
NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met) rs147982027 0.00010
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_006206.6(PDGFRA):c.1700C>T (p.Pro567Leu) rs201503614 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006206.6(PDGFRA):c.3004G>T (p.Asp1002Tyr) rs200676118 0.00001

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