ClinVar Miner

List of variants in gene PDGFRB studied for connective tissue neoplasm

Included ClinVar conditions (122):
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Gene type:
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Total variants: 110
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HGVS dbSNP
NC_000005.9:g.(?_149503793)_(149516630_?)dup
NM_002609.4(PDGFRB):c.102C>T (p.Val34=) rs17708515
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=)
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys) rs200684708
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=) rs200225593
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) rs374802057
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys) rs200203294
NM_002609.4(PDGFRB):c.1244-4G>A rs1580805805
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser) rs199873101
NM_002609.4(PDGFRB):c.12G>A (p.Pro4=) rs138641101
NM_002609.4(PDGFRB):c.1346C>T (p.Ser449Phe) rs1312583190
NM_002609.4(PDGFRB):c.1376G>A (p.Arg459His) rs149274963
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=) rs116171826
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=) rs371550567
NM_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) rs765124485
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) rs540480924
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) rs142992960
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) rs148974733
NM_002609.4(PDGFRB):c.1519_1520insTACTGTCGGTGC (p.Arg507_Cys508insLeuLeuSerVal)
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=)
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=) rs150562879
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) rs371192118
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=) rs1580804718
NM_002609.4(PDGFRB):c.1579+10C>T rs571420039
NM_002609.4(PDGFRB):c.1610C>A (p.Ala537Asp)
NM_002609.4(PDGFRB):c.1613T>A (p.Ile538Asn)
NM_002609.4(PDGFRB):c.1615_1616insGAT (p.Leu539_Ala540insArg) rs1060499541
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286
NM_002609.4(PDGFRB):c.1682_1684del (p.Arg561_Tyr562delinsHis)
NM_002609.4(PDGFRB):c.1684T>G (p.Tyr562Asp)
NM_002609.4(PDGFRB):c.1687G>A (p.Glu563Lys)
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg) rs1060499542
NM_002609.4(PDGFRB):c.1697_1702del (p.Trp566_Val568delinsLeu) rs1060499543
NM_002609.4(PDGFRB):c.1699A>G (p.Lys567Glu) rs1554108389
NM_002609.4(PDGFRB):c.1716_1717insGAGCTGATCCGATGGAAGGTGATTGAGTCTGTG (p.Ser573_Ser574insGluLeuIleArgTrpLysValIleGluSerVal)
NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg) rs863224946
NM_002609.4(PDGFRB):c.1761G>A (p.Leu587=) rs56078873
NM_002609.4(PDGFRB):c.1766A>G (p.Tyr589Cys)
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=)
NM_002609.4(PDGFRB):c.1777T>C (p.Trp593Arg) rs770027941
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) rs199649903
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) rs56072663
NM_002609.4(PDGFRB):c.1872T>C (p.His624=) rs141371542
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002609.4(PDGFRB):c.1998C>G (p.Asn666Lys) rs864309711
NM_002609.4(PDGFRB):c.2023+5C>T rs369842668
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys)
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=) rs753622898
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe) rs142689325
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=)
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=) rs192355633
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) rs555800957
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn)
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=) rs78336563
NM_002609.4(PDGFRB):c.2464-3C>T rs571983343
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=) rs55830572
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile)
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=) rs143375423
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108
NM_002609.4(PDGFRB):c.2549A>T (p.Asp850Val) rs1060499540
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) rs246395
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=) rs148709288
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) rs147303614
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) rs144234864
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=) rs55647240
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val)
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=)
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=) rs139623802
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys)
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) rs370594710
NM_002609.4(PDGFRB):c.2939G>A (p.Ser980Asn) rs1561984983
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) rs35731372
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) rs75748462
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) rs776113877
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=)
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) rs375836509
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) rs2228440
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) rs149417689
NM_002609.4(PDGFRB):c.3137+4A>G rs246391
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) rs141511317
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) rs246388
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=) rs183852315
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys)
NM_002609.4(PDGFRB):c.365-4G>T rs139448702
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp)
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=) rs751600349
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=)
NM_002609.4(PDGFRB):c.43G>A (p.Glu15Lys)
NM_002609.4(PDGFRB):c.484G>A (p.Glu162Lys) rs1562011077
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=)
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser)
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys) rs116642123
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=)
NM_002609.4(PDGFRB):c.631+1G>A
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=) rs41287114
NM_002609.4(PDGFRB):c.726G>C (p.Val242=) rs149027530
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944
NM_002609.4(PDGFRB):c.937A>G (p.Ser313Gly) rs1580808180
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=) rs56069016
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=)

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