ClinVar Miner

List of variants in gene PDGFRA reported as uncertain significance by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_006206.6(PDGFRA):c.1666_1671del (p.Glu556_Ile557del) rs2110299278
NM_006206.6(PDGFRA):c.1676_1681del (p.Trp559_Val561delinsPhe) rs2110299426
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) rs121908586
NM_006206.6(PDGFRA):c.2397dup (p.Tyr800fs) rs2110335874
NM_006206.6(PDGFRA):c.2504dup (p.Cys835fs) rs2110337912
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.2535_2543del (p.Asp846_Asn848del) rs121913266

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