ClinVar Miner

List of variants in gene PDGFRA reported as uncertain significance for not provided

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Gene type:
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Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207 0.01633
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_006206.6(PDGFRA):c.1280C>T (p.Ser427Leu) rs61735621 0.00056
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met) rs397514550 0.00034
NM_006206.6(PDGFRA):c.2306A>T (p.Lys769Met) rs373061721 0.00032
NM_006206.6(PDGFRA):c.2291G>A (p.Arg764His) rs141047712 0.00015
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_006206.6(PDGFRA):c.466G>A (p.Glu156Lys) rs760631068 0.00012
NM_006206.6(PDGFRA):c.2880+5G>A rs370128852 0.00011
NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val) rs145019788 0.00011
NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met) rs147982027 0.00010
NM_006206.6(PDGFRA):c.2942G>A (p.Arg981His) rs368266633 0.00010
NM_006206.6(PDGFRA):c.1319C>T (p.Thr440Met) rs143344944 0.00009
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu) rs754092062 0.00009
NM_006206.6(PDGFRA):c.248C>T (p.Thr83Met) rs779332376 0.00009
NM_006206.6(PDGFRA):c.1424A>C (p.Glu475Ala) rs780125769 0.00007
NM_006206.6(PDGFRA):c.*1971C>T rs886059459 0.00006
NM_006206.6(PDGFRA):c.1388C>G (p.Thr463Ser) rs375047532 0.00006
NM_006206.6(PDGFRA):c.1559-11_1559-10del rs781469947 0.00006
NM_006206.6(PDGFRA):c.1605G>T (p.Leu535Phe) rs779575357 0.00006
NM_006206.6(PDGFRA):c.1850G>A (p.Arg617Gln) rs377318745 0.00006
NM_006206.6(PDGFRA):c.2935C>T (p.Arg979Cys) rs587778597 0.00006
NM_006206.6(PDGFRA):c.2957A>G (p.Asn986Ser) rs372859148 0.00006
NM_006206.6(PDGFRA):c.772A>G (p.Ile258Val) rs1039985533 0.00006
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met) rs142492533 0.00006
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_006206.6(PDGFRA):c.2366G>A (p.Gly789Asp) rs555553917 0.00005
NM_006206.6(PDGFRA):c.3179T>A (p.Ile1060Asn) rs774522904 0.00005
NM_006206.6(PDGFRA):c.932-8C>T rs374863127 0.00005
NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg) rs769631321 0.00004
NM_006206.6(PDGFRA):c.1436G>A (p.Arg479Gln) rs777341485 0.00004
NM_006206.6(PDGFRA):c.1450G>A (p.Val484Met) rs149031291 0.00004
NM_006206.6(PDGFRA):c.1492G>A (p.Ala498Thr) rs758137485 0.00004
NM_006206.6(PDGFRA):c.1522G>A (p.Gly508Arg) rs770129304 0.00004
NM_006206.6(PDGFRA):c.1700C>T (p.Pro567Leu) rs201503614 0.00004
NM_006206.6(PDGFRA):c.2470G>A (p.Val824Ile) rs370600501 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006206.6(PDGFRA):c.3211G>A (p.Asp1071Asn) rs376544204 0.00004
NM_006206.6(PDGFRA):c.49+5G>A rs369607686 0.00004
NM_006206.6(PDGFRA):c.784G>C (p.Glu262Gln) rs376265745 0.00004
NM_006206.6(PDGFRA):c.1018C>T (p.Arg340Trp) rs376626935 0.00003
NM_006206.6(PDGFRA):c.1057A>C (p.Asn353His) rs139103850 0.00003
NM_006206.6(PDGFRA):c.1133A>T (p.Lys378Ile) rs200113704 0.00003
NM_006206.6(PDGFRA):c.1422G>A (p.Thr474=) rs149899465 0.00003
NM_006206.6(PDGFRA):c.2069G>T (p.Arg690Met) rs1344375373 0.00003
NM_006206.6(PDGFRA):c.2341C>A (p.Leu781Ile) rs757362953 0.00003
NM_006206.6(PDGFRA):c.842C>T (p.Thr281Met) rs770343276 0.00003
NM_006206.6(PDGFRA):c.899A>C (p.Lys300Thr) rs368648130 0.00003
NM_006206.6(PDGFRA):c.967C>G (p.Gln323Glu) rs138296072 0.00003
NM_006206.6(PDGFRA):c.97A>T (p.Asn33Tyr) rs200979664 0.00003
NM_006206.6(PDGFRA):c.1237+3A>T rs760562117 0.00002
NM_006206.6(PDGFRA):c.1673G>A (p.Arg558His) rs761924292 0.00002
NM_006206.6(PDGFRA):c.1822G>A (p.Val608Ile) rs138740193 0.00002
NM_006206.6(PDGFRA):c.1895C>T (p.Thr632Met) rs572964298 0.00002
NM_006206.6(PDGFRA):c.2936G>A (p.Arg979His) rs587778598 0.00002
NM_006206.6(PDGFRA):c.2998C>G (p.Leu1000Val) rs568721384 0.00002
NM_006206.6(PDGFRA):c.3040G>A (p.Ala1014Thr) rs768291477 0.00002
NM_006206.6(PDGFRA):c.3077A>G (p.Asp1026Gly) rs1418641601 0.00002
NM_006206.6(PDGFRA):c.3083T>C (p.Val1028Ala) rs765476521 0.00002
NM_006206.6(PDGFRA):c.3218del (p.Met1073fs) rs756442272 0.00002
NM_006206.6(PDGFRA):c.592T>A (p.Phe198Ile) rs562479351 0.00002
NM_006206.6(PDGFRA):c.809A>C (p.Lys270Thr) rs545359247 0.00002
NM_006206.6(PDGFRA):c.877C>T (p.Arg293Cys) rs762106764 0.00002
NM_006206.6(PDGFRA):c.1264G>A (p.Asp422Asn) rs770847351 0.00001
NM_006206.6(PDGFRA):c.1267G>A (p.Asp423Asn) rs776298880 0.00001
NM_006206.6(PDGFRA):c.1282A>G (p.Thr428Ala) rs878854820 0.00001
NM_006206.6(PDGFRA):c.1295C>T (p.Thr432Met) rs750809787 0.00001
NM_006206.6(PDGFRA):c.1307C>T (p.Thr436Ile) rs139920579 0.00001
NM_006206.6(PDGFRA):c.133T>C (p.Phe45Leu) rs149408217 0.00001
NM_006206.6(PDGFRA):c.1412A>G (p.Asn471Ser) rs1199380187 0.00001
NM_006206.6(PDGFRA):c.1425G>T (p.Glu475Asp) rs200309940 0.00001
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr) rs563016888 0.00001
NM_006206.6(PDGFRA):c.1495G>A (p.Val499Met) rs746574289 0.00001
NM_006206.6(PDGFRA):c.1516C>T (p.Leu506Phe) rs142980928 0.00001
NM_006206.6(PDGFRA):c.1535G>A (p.Arg512Gln) rs1174017872 0.00001
NM_006206.6(PDGFRA):c.1565G>A (p.Arg522His) rs765271720 0.00001
NM_006206.6(PDGFRA):c.1567T>A (p.Ser523Thr) rs147733970 0.00001
NM_006206.6(PDGFRA):c.1580T>C (p.Val527Ala) rs1294452177 0.00001
NM_006206.6(PDGFRA):c.1632C>T (p.Val544=) rs748519030 0.00001
NM_006206.6(PDGFRA):c.1658C>T (p.Pro553Leu) rs1060501502 0.00001
NM_006206.6(PDGFRA):c.1668A>T (p.Glu556Asp) rs1553904439 0.00001
NM_006206.6(PDGFRA):c.1730C>T (p.Pro577Leu) rs778015444 0.00001
NM_006206.6(PDGFRA):c.1789C>T (p.Arg597Trp) rs1349318035 0.00001
NM_006206.6(PDGFRA):c.2036A>G (p.Tyr679Cys) rs772617321 0.00001
NM_006206.6(PDGFRA):c.2285A>G (p.Tyr762Cys) rs1171641135 0.00001
NM_006206.6(PDGFRA):c.2540C>T (p.Ser847Leu) rs377487797 0.00001
NM_006206.6(PDGFRA):c.2575G>A (p.Val859Met) rs1060501520 0.00001
NM_006206.6(PDGFRA):c.2679C>T (p.Gly893=) rs148970242 0.00001
NM_006206.6(PDGFRA):c.275C>T (p.Ala92Val) rs759729258 0.00001
NM_006206.6(PDGFRA):c.2941C>T (p.Arg981Cys) rs775205485 0.00001
NM_006206.6(PDGFRA):c.3004G>T (p.Asp1002Tyr) rs200676118 0.00001
NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly) rs375050626 0.00001
NM_006206.6(PDGFRA):c.401C>T (p.Thr134Met) rs373126818 0.00001
NM_006206.6(PDGFRA):c.46A>T (p.Thr16Ser) rs587778596 0.00001
NM_006206.6(PDGFRA):c.590A>C (p.Lys197Thr) rs200484286 0.00001
NM_006206.6(PDGFRA):c.613G>A (p.Val205Ile) rs775304724 0.00001
NM_006206.6(PDGFRA):c.799C>T (p.Pro267Ser) rs757378016 0.00001
NM_006206.6(PDGFRA):c.821C>G (p.Thr274Ser) rs758194640 0.00001
NM_006206.6(PDGFRA):c.88A>G (p.Ile30Val) rs780747709 0.00001
NM_006206.6(PDGFRA):c.932-13C>A rs762963804 0.00001
NM_006206.6(PDGFRA):c.*1109_*1111del rs34529347
NM_006206.6(PDGFRA):c.*5C>T
NM_006206.6(PDGFRA):c.1009G>T (p.Val337Leu) rs1723113653
NM_006206.6(PDGFRA):c.1087A>G (p.Ile363Val)
NM_006206.6(PDGFRA):c.1133A>C (p.Lys378Thr) rs200113704
NM_006206.6(PDGFRA):c.1243T>C (p.Ser415Pro) rs1060501514
NM_006206.6(PDGFRA):c.1357A>G (p.Ile453Val) rs587778603
NM_006206.6(PDGFRA):c.1357A>T (p.Ile453Phe) rs587778603
NM_006206.6(PDGFRA):c.1411A>C (p.Asn471His) rs758497476
NM_006206.6(PDGFRA):c.1414A>G (p.Ile472Val) rs1553904177
NM_006206.6(PDGFRA):c.1417A>G (p.Ile473Val) rs587778594
NM_006206.6(PDGFRA):c.1440C>T (p.Asp480=) rs144723510
NM_006206.6(PDGFRA):c.1490T>C (p.Ile497Thr) rs1577724495
NM_006206.6(PDGFRA):c.1495G>T (p.Val499Leu) rs746574289
NM_006206.6(PDGFRA):c.1546C>G (p.Leu516Val) rs763214177
NM_006206.6(PDGFRA):c.158G>T (p.Ser53Ile) rs1190592187
NM_006206.6(PDGFRA):c.1599G>T (p.Val533=) rs146832047
NM_006206.6(PDGFRA):c.1666_1671del (p.Glu556_Ile557del) rs2110299278
NM_006206.6(PDGFRA):c.1672C>A (p.Arg558Ser) rs765680542
NM_006206.6(PDGFRA):c.1676_1681del (p.Trp559_Val561delinsPhe) rs2110299426
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) rs121908586
NM_006206.6(PDGFRA):c.1693A>G (p.Ile565Val) rs1178831870
NM_006206.6(PDGFRA):c.1750T>G (p.Ser584Ala) rs2110300449
NM_006206.6(PDGFRA):c.1848C>G (p.Ser616Arg) rs780111998
NM_006206.6(PDGFRA):c.1892C>T (p.Pro631Leu)
NM_006206.6(PDGFRA):c.194A>G (p.Glu65Gly)
NM_006206.6(PDGFRA):c.1951C>G (p.Leu651Val)
NM_006206.6(PDGFRA):c.19G>T (p.Ala7Ser) rs1467619698
NM_006206.6(PDGFRA):c.2083A>G (p.Ser695Gly)
NM_006206.6(PDGFRA):c.2141A>T (p.Asp714Val) rs1560483897
NM_006206.6(PDGFRA):c.2146A>G (p.Ser716Gly) rs1553905049
NM_006206.6(PDGFRA):c.2196G>A (p.Met732Ile) rs1724003134
NM_006206.6(PDGFRA):c.2215A>T (p.Thr739Ser) rs766379425
NM_006206.6(PDGFRA):c.2397dup (p.Tyr800fs) rs2110335874
NM_006206.6(PDGFRA):c.2504dup (p.Cys835fs) rs2110337912
NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val) rs121908585
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) rs1553906053
NM_006206.6(PDGFRA):c.2535_2543del (p.Asp846_Asn848del) rs121913266
NM_006206.6(PDGFRA):c.2579A>G (p.Lys860Arg)
NM_006206.6(PDGFRA):c.25C>T (p.Leu9=) rs375117626
NM_006206.6(PDGFRA):c.2609A>G (p.Asn870Ser) rs1553906267
NM_006206.6(PDGFRA):c.274G>A (p.Ala92Thr) rs2110243163
NM_006206.6(PDGFRA):c.2768G>C (p.Ser923Thr) rs1060501511
NM_006206.6(PDGFRA):c.2882G>A (p.Ser961Asn) rs2110347989
NM_006206.6(PDGFRA):c.2942G>T (p.Arg981Leu) rs368266633
NM_006206.6(PDGFRA):c.2953G>A (p.Asp985Asn) rs1060501516
NM_006206.6(PDGFRA):c.295A>G (p.Thr99Ala) rs1265201159
NM_006206.6(PDGFRA):c.2988_2990del (p.Glu997del) rs781561737
NM_006206.6(PDGFRA):c.3062C>T (p.Pro1021Leu) rs772837015
NM_006206.6(PDGFRA):c.3074T>C (p.Ile1025Thr) rs1002548765
NM_006206.6(PDGFRA):c.3169T>G (p.Ser1057Ala)
NM_006206.6(PDGFRA):c.3206_3211delinsGCATCA (p.Asp1069_Asp1071delinsGlyIleAsn)
NM_006206.6(PDGFRA):c.3207C>G (p.Asp1069Glu)
NM_006206.6(PDGFRA):c.3259A>G (p.Ser1087Gly) rs2110359113
NM_006206.6(PDGFRA):c.362T>C (p.Val121Ala) rs2110243774
NM_006206.6(PDGFRA):c.405T>A (p.Asp135Glu) rs766197882
NM_006206.6(PDGFRA):c.412G>A (p.Val138Ile)
NM_006206.6(PDGFRA):c.457A>G (p.Thr153Ala)
NM_006206.6(PDGFRA):c.489C>G (p.Asn163Lys) rs576890188
NM_006206.6(PDGFRA):c.492T>G (p.Ser164Arg) rs776491556
NM_006206.6(PDGFRA):c.4G>A (p.Gly2Arg) rs1722515922
NM_006206.6(PDGFRA):c.506C>T (p.Pro169Leu)
NM_006206.6(PDGFRA):c.517G>C (p.Asp173His) rs763718380
NM_006206.6(PDGFRA):c.670G>A (p.Val224Met) rs1248275606
NM_006206.6(PDGFRA):c.701C>T (p.Thr234Ile) rs1553902931
NM_006206.6(PDGFRA):c.859G>A (p.Asp287Asn) rs1553903251
NM_006206.6(PDGFRA):c.865G>C (p.Glu289Gln)
NM_006206.6(PDGFRA):c.878G>A (p.Arg293His) rs373948582
NM_006206.6(PDGFRA):c.898A>G (p.Lys300Glu) rs996658686
NM_006206.6(PDGFRA):c.910A>G (p.Lys304Glu)

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