ClinVar Miner

List of variants in gene PDGFRB reported as uncertain significance for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys) rs148853962 0.00019
NM_002609.4(PDGFRB):c.2023+5C>T rs369842668 0.00014
NM_002609.4(PDGFRB):c.2464-3C>T rs571983343 0.00009
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile) rs200865355 0.00006
NM_002609.4(PDGFRB):c.2463+4C>T rs557338313 0.00004
NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys) rs541926152 0.00002
NM_002609.4(PDGFRB):c.1378G>A (p.Glu460Lys) rs202179598 0.00001
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys) rs1483057981 0.00001
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) rs770027941 0.00001
NM_002609.4(PDGFRB):c.1804del (p.Leu602fs) rs771859820 0.00001
NM_002609.4(PDGFRB):c.1853C>T (p.Thr618Met) rs139554380 0.00001
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370 0.00001
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) rs750896639 0.00001
NM_002609.4(PDGFRB):c.2954T>C (p.Ile985Thr) rs753367645 0.00001
NM_002609.4(PDGFRB):c.3292C>T (p.Arg1098Trp) rs267600485 0.00001
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) rs138830253 0.00001
NM_002609.4(PDGFRB):c.646G>A (p.Val216Ile) rs370817438 0.00001
NM_002609.4(PDGFRB):c.875A>G (p.Asn292Ser) rs1175765188 0.00001
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) rs1580808180 0.00001
NM_002609.4(PDGFRB):c.94G>A (p.Gly32Ser) rs761286709 0.00001
NC_000005.9:g.(?_149503793)_(149516630_?)dup
NM_002609.4(PDGFRB):c.1034C>T (p.Pro345Leu)
NM_002609.4(PDGFRB):c.1096G>A (p.Ala366Thr)
NM_002609.4(PDGFRB):c.1109G>A (p.Arg370His)
NM_002609.4(PDGFRB):c.1127G>A (p.Arg376Gln)
NM_002609.4(PDGFRB):c.1156G>C (p.Val386Leu)
NM_002609.4(PDGFRB):c.1278C>A (p.His426Gln)
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) rs1312583190
NM_002609.4(PDGFRB):c.1531C>T (p.Arg511Cys)
NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr)
NM_002609.4(PDGFRB):c.1540G>A (p.Val514Met)
NM_002609.4(PDGFRB):c.1630C>T (p.Leu544Phe) rs2113898287
NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val)
NM_002609.4(PDGFRB):c.1714G>A (p.Val572Met) rs2113897117
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys) rs1760269359
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) rs202213873
NM_002609.4(PDGFRB):c.1775C>A (p.Thr592Lys)
NM_002609.4(PDGFRB):c.1775C>T (p.Thr592Met)
NM_002609.4(PDGFRB):c.17C>G (p.Ala6Gly)
NM_002609.4(PDGFRB):c.191G>A (p.Arg64Gln)
NM_002609.4(PDGFRB):c.2023+6G>A
NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His)
NM_002609.4(PDGFRB):c.2062G>C (p.Asp688His)
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_002609.4(PDGFRB):c.2094dup (p.Thr699fs)
NM_002609.4(PDGFRB):c.2116G>T (p.Asp706Tyr) rs770635073
NM_002609.4(PDGFRB):c.2191T>G (p.Ser731Ala)
NM_002609.4(PDGFRB):c.2235G>C (p.Lys745Asn) rs1760151971
NM_002609.4(PDGFRB):c.2270T>C (p.Met757Thr)
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
NM_002609.4(PDGFRB):c.2281G>C (p.Val761Leu)
NM_002609.4(PDGFRB):c.2328T>A (p.Asp776Glu)
NM_002609.4(PDGFRB):c.2360G>A (p.Cys787Tyr) rs2113890060
NM_002609.4(PDGFRB):c.2380G>A (p.Glu794Lys)
NM_002609.4(PDGFRB):c.2386C>T (p.Pro796Ser)
NM_002609.4(PDGFRB):c.2483C>T (p.Ala828Val)
NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn)
NM_002609.4(PDGFRB):c.2698+1G>T
NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu)
NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys)
NM_002609.4(PDGFRB):c.2811G>A (p.Met937Ile)
NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys)
NM_002609.4(PDGFRB):c.2905-1G>T
NM_002609.4(PDGFRB):c.2905-8G>A rs201866603
NM_002609.4(PDGFRB):c.2909A>C (p.Tyr970Ser)
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) rs1561984983
NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile)
NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro)
NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu)
NM_002609.4(PDGFRB):c.3274T>A (p.Ser1092Thr)
NM_002609.4(PDGFRB):c.337C>T (p.Arg113Trp)
NM_002609.4(PDGFRB):c.373G>A (p.Val125Met)
NM_002609.4(PDGFRB):c.377G>C (p.Gly126Ala)
NM_002609.4(PDGFRB):c.449G>A (p.Arg150Gln)
NM_002609.4(PDGFRB):c.460C>T (p.Pro154Ser)
NM_002609.4(PDGFRB):c.461C>G (p.Pro154Arg)
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) rs1562011077
NM_002609.4(PDGFRB):c.511G>T (p.Val171Phe)
NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile)
NM_002609.4(PDGFRB):c.631+1G>A rs111491260
NM_002609.4(PDGFRB):c.745T>C (p.Tyr249His)
NM_002609.4(PDGFRB):c.805C>G (p.Pro269Ala)
NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys)
NM_002609.4(PDGFRB):c.950G>A (p.Arg317Gln)
NM_002609.4(PDGFRB):c.991C>T (p.His331Tyr)
NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp)

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