ClinVar Miner

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

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 120
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys) rs148853962 0.00019
NM_002609.4(PDGFRB):c.1636A>G (p.Ile546Val) rs373049018 0.00018
NM_002609.4(PDGFRB):c.2023+5C>T rs369842668 0.00014
NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys) rs34586048 0.00011
NM_002609.4(PDGFRB):c.2464-3C>T rs571983343 0.00009
NM_002609.4(PDGFRB):c.1106C>T (p.Thr369Met) rs375343084 0.00006
NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) rs759436020 0.00006
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile) rs200865355 0.00006
NM_002609.4(PDGFRB):c.373G>A (p.Val125Met) rs540587683 0.00005
NM_002609.4(PDGFRB):c.2463+4C>T rs557338313 0.00004
NM_002609.4(PDGFRB):c.1531C>T (p.Arg511Cys) rs765383598 0.00003
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu) rs147952898 0.00003
NM_002609.4(PDGFRB):c.2023+6G>A rs778954389 0.00003
NM_002609.4(PDGFRB):c.3139T>C (p.Ser1047Pro) rs752920926 0.00003
NM_002609.4(PDGFRB):c.449G>A (p.Arg150Gln) rs760987130 0.00003
NM_002609.4(PDGFRB):c.1378G>A (p.Glu460Lys) rs202179598 0.00002
NM_002609.4(PDGFRB):c.1810C>T (p.Arg604Cys) rs541926152 0.00002
NM_002609.4(PDGFRB):c.2054G>A (p.Arg685His) rs200986052 0.00002
NM_002609.4(PDGFRB):c.460C>T (p.Pro154Ser) rs746218367 0.00002
NM_002609.4(PDGFRB):c.1096G>A (p.Ala366Thr) rs368602685 0.00001
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) rs765124485 0.00001
NM_002609.4(PDGFRB):c.1537G>A (p.Ala513Thr) rs768971476 0.00001
NM_002609.4(PDGFRB):c.1660A>G (p.Met554Val) rs1210272407 0.00001
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys) rs1483057981 0.00001
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser) rs1231735690 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.191G>A (p.Arg64Gln) rs1244128395 0.00001
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370 0.00001
NM_002609.4(PDGFRB):c.2235G>C (p.Lys745Asn) rs1760151971 0.00001
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile) rs747659448 0.00001
NM_002609.4(PDGFRB):c.2380G>A (p.Glu794Lys) rs765478860 0.00001
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn) rs750896639 0.00001
NM_002609.4(PDGFRB):c.2811G>A (p.Met937Ile) rs751229604 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.337C>T (p.Arg113Trp) rs968860845 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
NM_002609.4(PDGFRB):c.950G>A (p.Arg317Gln) rs1443597666 0.00001
NC_000005.9:g.(?_149503793)_(149516630_?)dup
NM_002609.4(PDGFRB):c.1034C>T (p.Pro345Leu) rs201250234
NM_002609.4(PDGFRB):c.1064G>A (p.Arg355His)
NM_002609.4(PDGFRB):c.1075G>A (p.Asp359Asn)
NM_002609.4(PDGFRB):c.1109G>A (p.Arg370His) rs1399784936
NM_002609.4(PDGFRB):c.1127G>A (p.Arg376Gln) rs1442264858
NM_002609.4(PDGFRB):c.1156G>C (p.Val386Leu) rs541469612
NM_002609.4(PDGFRB):c.1190G>A (p.Arg397Gln)
NM_002609.4(PDGFRB):c.1273A>G (p.Ser425Gly)
NM_002609.4(PDGFRB):c.1274G>A (p.Ser425Asn)
NM_002609.4(PDGFRB):c.1278C>A (p.His426Gln) rs1760438629
NM_002609.4(PDGFRB):c.1298C>G (p.Thr433Arg)
NM_002609.4(PDGFRB):c.1304G>A (p.Arg435His)
NM_002609.4(PDGFRB):c.1310G>A (p.Arg437His)
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) rs1312583190
NM_002609.4(PDGFRB):c.1388C>T (p.Pro463Leu)
NM_002609.4(PDGFRB):c.1495C>T (p.His499Tyr)
NM_002609.4(PDGFRB):c.1540G>A (p.Val514Met) rs2113902538
NM_002609.4(PDGFRB):c.1576C>T (p.His526Tyr)
NM_002609.4(PDGFRB):c.1630C>T (p.Leu544Phe) rs2113898287
NM_002609.4(PDGFRB):c.165G>A (p.Ser55=)
NM_002609.4(PDGFRB):c.1714G>A (p.Val572Met) rs2113897117
NM_002609.4(PDGFRB):c.1726G>A (p.Gly576Ser)
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys) rs1760269359
NM_002609.4(PDGFRB):c.176C>G (p.Pro59Arg)
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu) rs202213873
NM_002609.4(PDGFRB):c.1775C>A (p.Thr592Lys) rs771835513
NM_002609.4(PDGFRB):c.1775C>T (p.Thr592Met) rs771835513
NM_002609.4(PDGFRB):c.17C>G (p.Ala6Gly) rs150173975
NM_002609.4(PDGFRB):c.1856C>T (p.Ala619Val)
NM_002609.4(PDGFRB):c.1870C>T (p.His624Tyr)
NM_002609.4(PDGFRB):c.2062G>C (p.Asp688His) rs1249635203
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_002609.4(PDGFRB):c.2094dup (p.Thr699fs) rs2527544755
NM_002609.4(PDGFRB):c.2116G>T (p.Asp706Tyr) rs770635073
NM_002609.4(PDGFRB):c.2191T>G (p.Ser731Ala) rs2481191162
NM_002609.4(PDGFRB):c.2195T>G (p.Leu732Trp)
NM_002609.4(PDGFRB):c.2270T>C (p.Met757Thr) rs922382503
NM_002609.4(PDGFRB):c.2281G>C (p.Val761Leu) rs747659448
NM_002609.4(PDGFRB):c.2299G>A (p.Glu767Lys)
NM_002609.4(PDGFRB):c.2328T>A (p.Asp776Glu) rs2481190276
NM_002609.4(PDGFRB):c.2357C>T (p.Thr786Ile)
NM_002609.4(PDGFRB):c.2360G>A (p.Cys787Tyr) rs2113890060
NM_002609.4(PDGFRB):c.2386C>T (p.Pro796Ser) rs1760125881
NM_002609.4(PDGFRB):c.2414G>T (p.Gly805Val)
NM_002609.4(PDGFRB):c.2483C>T (p.Ala828Val) rs2113888986
NM_002609.4(PDGFRB):c.2586C>T (p.Ser862=)
NM_002609.4(PDGFRB):c.2653G>A (p.Asp885Asn) rs2481183290
NM_002609.4(PDGFRB):c.2698+1G>T rs2481183138
NM_002609.4(PDGFRB):c.2714C>T (p.Pro905Leu) rs1456958325
NM_002609.4(PDGFRB):c.2741A>G (p.Tyr914Cys) rs1436303129
NM_002609.4(PDGFRB):c.2797A>T (p.Ile933Phe)
NM_002609.4(PDGFRB):c.2798+1G>A
NM_002609.4(PDGFRB):c.2855C>G (p.Ser952Cys) rs376007701
NM_002609.4(PDGFRB):c.2905-1G>T rs2113884548
NM_002609.4(PDGFRB):c.2905-8G>A rs201866603
NM_002609.4(PDGFRB):c.2909A>C (p.Tyr970Ser) rs150600919
NM_002609.4(PDGFRB):c.2914C>A (p.Gln972Lys) rs1411722144
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) rs1561984983
NM_002609.4(PDGFRB):c.3029C>T (p.Thr1010Ile) rs2113883881
NM_002609.4(PDGFRB):c.3256_3257insCGGAGC (p.Glu1085_Leu1086insProGlu) rs1238695788
NM_002609.4(PDGFRB):c.3274T>A (p.Ser1092Thr) rs1759910310
NM_002609.4(PDGFRB):c.377G>C (p.Gly126Ala) rs371293050
NM_002609.4(PDGFRB):c.461C>G (p.Pro154Arg) rs774900944
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) rs1562011077
NM_002609.4(PDGFRB):c.511G>T (p.Val171Phe) rs2113910822
NM_002609.4(PDGFRB):c.575C>T (p.Thr192Ile) rs773564134
NM_002609.4(PDGFRB):c.631+1G>A rs111491260
NM_002609.4(PDGFRB):c.715G>A (p.Gly239Arg)
NM_002609.4(PDGFRB):c.745T>C (p.Tyr249His) rs2481238753
NM_002609.4(PDGFRB):c.805C>G (p.Pro269Ala) rs1760543023
NM_002609.4(PDGFRB):c.91C>A (p.Gln31Lys)
NM_002609.4(PDGFRB):c.931G>A (p.Val311Ile)
NM_002609.4(PDGFRB):c.991C>T (p.His331Tyr) rs2481233907
NM_002609.4(PDGFRB):c.994C>T (p.Arg332Trp) rs1291265658
NM_002609.4(PDGFRB):c.995G>A (p.Arg332Gln)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.