ClinVar Miner

List of variants in gene PDGFB reported as uncertain significance for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_002608.4(PDGFB):c.647G>A (p.Arg216His) rs371825684 0.00021
NM_002608.4(PDGFB):c.560G>A (p.Arg187Gln) rs146204796 0.00013
NM_002608.4(PDGFB):c.326G>A (p.Arg109His) rs763444206 0.00010
NM_002608.4(PDGFB):c.415G>A (p.Val139Met) rs371522759 0.00008
NM_002608.4(PDGFB):c.338G>A (p.Arg113His) rs564553038 0.00007
NM_002608.4(PDGFB):c.597G>T (p.Gln199His) rs139548530 0.00005
NM_002608.4(PDGFB):c.620G>A (p.Arg207Gln) rs779029549 0.00004
NM_002608.4(PDGFB):c.631C>T (p.Arg211Trp) rs748120255 0.00004
NM_002608.4(PDGFB):c.559C>T (p.Arg187Trp) rs139111221 0.00003
NM_002608.4(PDGFB):c.110C>T (p.Ser37Leu) rs370558688 0.00002
NM_002608.4(PDGFB):c.619C>T (p.Arg207Trp) rs141759813 0.00002
NM_002608.4(PDGFB):c.686C>T (p.Thr229Met) rs754605938 0.00002
NM_002608.4(PDGFB):c.703C>G (p.Leu235Val) rs766113027 0.00002
NM_002608.4(PDGFB):c.136C>T (p.Arg46Cys) rs758693929 0.00001
NM_002608.4(PDGFB):c.278T>C (p.Met93Thr) rs377503522 0.00001
NM_002608.4(PDGFB):c.424C>T (p.Arg142Cys) rs758929255 0.00001
NM_002608.4(PDGFB):c.578C>T (p.Pro193Leu) rs768337269 0.00001
NM_002608.4(PDGFB):c.608C>T (p.Thr203Met) rs150560474 0.00001
NM_002608.4(PDGFB):c.79G>A (p.Glu27Lys) rs1275509756 0.00001
NM_002608.4(PDGFB):c.19C>T (p.Leu7Phe)
NM_002608.4(PDGFB):c.434A>G (p.Gln145Arg)
NM_002608.4(PDGFB):c.468C>G (p.Ile156Met)
NM_002608.4(PDGFB):c.478C>T (p.Arg160Trp) rs773106218
NM_002608.4(PDGFB):c.506C>T (p.Thr169Met) rs143980537
NM_002608.4(PDGFB):c.61G>A (p.Glu21Lys)
NM_002608.4(PDGFB):c.646C>T (p.Arg216Cys)
NM_002608.4(PDGFB):c.656C>G (p.Pro219Arg) rs200444646
NM_002608.4(PDGFB):c.661G>A (p.Gly221Ser)
NM_002608.4(PDGFB):c.722C>G (p.Ala241Gly)

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