ClinVar Miner

List of variants in gene PDGFRB studied for Myofibromatosis, infantile, 1

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.3137+4A>G rs246391 0.38064
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) rs246388 0.36517
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) rs246395 0.26470
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) rs2228440 0.09078
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.06902
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) rs56072663 0.02546
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110 0.01976
NM_002609.4(PDGFRB):c.102C>T (p.Val34=) rs17708515 0.01112
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00811
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439 0.00775
NM_002609.4(PDGFRB):c.365-4G>T rs139448702 0.00583
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) rs149417689 0.00523
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00283
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108 0.00236
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370 0.00001
NM_002609.4(PDGFRB):c.1684T>A (p.Tyr562Asn)
NM_002609.4(PDGFRB):c.1699A>G (p.Lys567Glu) rs1554108389
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002609.4(PDGFRB):c.2546_2548del (p.Arg849_Asp850delinsHis)
NM_002609.4(PDGFRB):c.2548G>T (p.Asp850Tyr)
NM_002609.4(PDGFRB):c.2549A>G (p.Asp850Gly) rs1060499540
NM_002609.4(PDGFRB):c.2905-8G>A rs201866603
NM_002609.4(PDGFRB):c.530G>A (p.Arg177His)

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