ClinVar Miner

List of variants studied for Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal

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Total variants: 177
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HGVS dbSNP gnomAD frequency
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.2965A>G (p.Ile989Val) rs145019788 0.00011
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.820A>T (p.Thr274Ser) rs747956260 0.00007
NM_006206.6(PDGFRA):c.1388C>G (p.Thr463Ser) rs375047532 0.00006
NM_006206.6(PDGFRA):c.1605G>T (p.Leu535Phe) rs779575357 0.00006
NM_006206.6(PDGFRA):c.2075G>A (p.Ser692Asn) rs371065167 0.00006
NM_006206.6(PDGFRA):c.3193G>A (p.Glu1065Lys) rs369389595 0.00006
NM_006206.6(PDGFRA):c.827C>T (p.Thr276Met) rs142492533 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.322G>A (p.Glu108Lys) rs878854829 0.00005
NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg) rs769631321 0.00004
NM_006206.6(PDGFRA):c.1364+6G>T rs368934617 0.00004
NM_006206.6(PDGFRA):c.1460G>A (p.Arg487His) rs764214258 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.838G>T (p.Ala280Ser) rs150927351 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.2069G>T (p.Arg690Met) rs1344375373 0.00003
NM_006206.6(PDGFRA):c.2692G>A (p.Gly898Ser) rs1185214354 0.00003
NM_006206.6(PDGFRA):c.272C>T (p.Ser91Leu) rs538480165 0.00003
NM_006206.6(PDGFRA):c.899A>C (p.Lys300Thr) rs368648130 0.00003
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.2153G>A (p.Arg718Gln) rs367722824 0.00002
NM_006206.6(PDGFRA):c.2411G>A (p.Arg804Gln) rs571523023 0.00002
NM_006206.6(PDGFRA):c.2534A>G (p.His845Arg) rs777679907 0.00002
NM_006206.6(PDGFRA):c.2781G>C (p.Glu927Asp) rs759251401 0.00002
NM_006206.6(PDGFRA):c.2936G>A (p.Arg979His) rs587778598 0.00002
NM_006206.6(PDGFRA):c.2939T>C (p.Met980Thr) rs1381392993 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.50G>T (p.Gly17Val) rs766600687 0.00002
NM_006206.6(PDGFRA):c.517G>A (p.Asp173Asn) rs763718380 0.00002
NM_006206.6(PDGFRA):c.592T>A (p.Phe198Ile) rs562479351 0.00002
NM_006206.6(PDGFRA):c.877C>T (p.Arg293Cys) rs762106764 0.00002
NM_006206.6(PDGFRA):c.1273C>T (p.His425Tyr) rs759374919 0.00001
NM_006206.6(PDGFRA):c.133T>C (p.Phe45Leu) rs149408217 0.00001
NM_006206.6(PDGFRA):c.1425G>T (p.Glu475Asp) rs200309940 0.00001
NM_006206.6(PDGFRA):c.1438G>A (p.Asp480Asn) rs746522772 0.00001
NM_006206.6(PDGFRA):c.1459C>T (p.Arg487Cys) rs763237825 0.00001
NM_006206.6(PDGFRA):c.1475A>C (p.Lys492Thr) rs754824764 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.1577C>T (p.Thr526Met) rs904415979 0.00001
NM_006206.6(PDGFRA):c.1580T>C (p.Val527Ala) rs1294452177 0.00001
NM_006206.6(PDGFRA):c.1850G>C (p.Arg617Pro) rs377318745 0.00001
NM_006206.6(PDGFRA):c.1962T>A (p.His654Gln) rs745658205 0.00001
NM_006206.6(PDGFRA):c.2215A>G (p.Thr739Ala) rs766379425 0.00001
NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn) rs555347387 0.00001
NM_006206.6(PDGFRA):c.2285A>G (p.Tyr762Cys) rs1171641135 0.00001
NM_006206.6(PDGFRA):c.2303A>G (p.Tyr768Cys) rs61735625 0.00001
NM_006206.6(PDGFRA):c.235G>A (p.Gly79Ser) rs1333247214 0.00001
NM_006206.6(PDGFRA):c.2449C>T (p.Arg817Cys) rs776099721 0.00001
NM_006206.6(PDGFRA):c.2483A>G (p.Gln828Arg) rs756209197 0.00001
NM_006206.6(PDGFRA):c.2689C>T (p.Pro897Ser) rs1435679141 0.00001
NM_006206.6(PDGFRA):c.2711C>T (p.Thr904Ile) rs778327861 0.00001
NM_006206.6(PDGFRA):c.275C>T (p.Ala92Val) rs759729258 0.00001
NM_006206.6(PDGFRA):c.282C>A (p.His94Gln) rs750282565 0.00001
NM_006206.6(PDGFRA):c.2870A>G (p.Gln957Arg) rs757720616 0.00001
NM_006206.6(PDGFRA):c.2890A>G (p.Lys964Glu) rs1290364180 0.00001
NM_006206.6(PDGFRA):c.2960C>T (p.Ala987Val) rs756632688 0.00001
NM_006206.6(PDGFRA):c.2966T>C (p.Ile989Thr) rs587778599 0.00001
NM_006206.6(PDGFRA):c.2989G>A (p.Glu997Lys) rs758534651 0.00001
NM_006206.6(PDGFRA):c.3009G>T (p.Trp1003Cys) rs981559406 0.00001
NM_006206.6(PDGFRA):c.3079C>T (p.Pro1027Ser) rs1383509559 0.00001
NM_006206.6(PDGFRA):c.3191A>G (p.Asp1064Gly) rs375050626 0.00001
NM_006206.6(PDGFRA):c.3200T>C (p.Ile1067Thr) rs1346616192 0.00001
NM_006206.6(PDGFRA):c.3218T>C (p.Met1073Thr) rs764405049 0.00001
NM_006206.6(PDGFRA):c.3223G>A (p.Asp1075Asn) rs767697835 0.00001
NM_006206.6(PDGFRA):c.527A>G (p.Gln176Arg) rs139217250 0.00001
NM_006206.6(PDGFRA):c.581A>G (p.Lys194Arg) rs1323449085 0.00001
NM_006206.6(PDGFRA):c.799C>T (p.Pro267Ser) rs757378016 0.00001
NM_006206.6(PDGFRA):c.88A>G (p.Ile30Val) rs780747709 0.00001
NM_006206.6(PDGFRA):c.916A>G (p.Thr306Ala) rs1408714732 0.00001
NM_006206.6(PDGFRA):c.988C>T (p.His330Tyr) rs991683337 0.00001
NM_006206.6(PDGFRA):c.1000C>T (p.His334Tyr) rs1723113261
NM_006206.6(PDGFRA):c.1102G>A (p.Glu368Lys)
NM_006206.6(PDGFRA):c.1181T>C (p.Ile394Thr)
NM_006206.6(PDGFRA):c.11C>A (p.Ser4Tyr) rs138929755
NM_006206.6(PDGFRA):c.11C>T (p.Ser4Phe) rs138929755
NM_006206.6(PDGFRA):c.1212C>G (p.Ser404Arg)
NM_006206.6(PDGFRA):c.1214A>G (p.Tyr405Cys) rs1553903757
NM_006206.6(PDGFRA):c.1283C>T (p.Thr428Ile) rs762651640
NM_006206.6(PDGFRA):c.1298T>C (p.Val433Ala) rs1723456601
NM_006206.6(PDGFRA):c.1357A>G (p.Ile453Val) rs587778603
NM_006206.6(PDGFRA):c.145T>C (p.Cys49Arg)
NM_006206.6(PDGFRA):c.1552G>A (p.Ala518Thr)
NM_006206.6(PDGFRA):c.1556C>A (p.Pro519His)
NM_006206.6(PDGFRA):c.1589C>T (p.Ala530Val)
NM_006206.6(PDGFRA):c.1610T>C (p.Ile537Thr) rs1723605045
NM_006206.6(PDGFRA):c.1616T>A (p.Ile539Asn)
NM_006206.6(PDGFRA):c.1631T>G (p.Val544Gly)
NM_006206.6(PDGFRA):c.1642A>G (p.Ile548Val) rs1060501500
NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys) rs770950644
NM_006206.6(PDGFRA):c.1664A>G (p.Tyr555Cys) rs121908589
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) rs121908586
NM_006206.6(PDGFRA):c.1694T>C (p.Ile565Thr) rs1723632913
NM_006206.6(PDGFRA):c.1721A>T (p.Tyr574Phe) rs924618799
NM_006206.6(PDGFRA):c.1736A>G (p.Gln579Arg)
NM_006206.6(PDGFRA):c.1780G>C (p.Val594Leu) rs2110300821
NM_006206.6(PDGFRA):c.1792G>A (p.Val598Ile) rs1723796497
NM_006206.6(PDGFRA):c.1849C>T (p.Arg617Trp) rs878854825
NM_006206.6(PDGFRA):c.1907G>C (p.Ser636Thr) rs1723827579
NM_006206.6(PDGFRA):c.1926G>A (p.Met642Ile) rs1553904882
NM_006206.6(PDGFRA):c.1957_1958delinsTT (p.Pro653Leu)
NM_006206.6(PDGFRA):c.2014A>G (p.Ile672Val) rs1723872066
NM_006206.6(PDGFRA):c.2054A>G (p.Tyr685Cys)
NM_006206.6(PDGFRA):c.206T>C (p.Val69Ala) rs757101121
NM_006206.6(PDGFRA):c.2116G>T (p.Asp706Tyr)
NM_006206.6(PDGFRA):c.2120T>G (p.Ile707Ser)
NM_006206.6(PDGFRA):c.2186G>A (p.Gly729Asp)
NM_006206.6(PDGFRA):c.2234T>C (p.Met745Thr) rs1368223217
NM_006206.6(PDGFRA):c.2235G>T (p.Met745Ile)
NM_006206.6(PDGFRA):c.2237T>C (p.Leu746Pro)
NM_006206.6(PDGFRA):c.2302T>C (p.Tyr768His) rs778762046
NM_006206.6(PDGFRA):c.2306A>G (p.Lys769Arg) rs373061721
NM_006206.6(PDGFRA):c.230A>G (p.Asn77Ser) rs1553902417
NM_006206.6(PDGFRA):c.2323+1180T>C
NM_006206.6(PDGFRA):c.2335A>G (p.Lys779Glu) rs2110335436
NM_006206.6(PDGFRA):c.2341C>T (p.Leu781Phe) rs757362953
NM_006206.6(PDGFRA):c.2342T>A (p.Leu781His) rs1724299939
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588
NM_006206.6(PDGFRA):c.2537A>T (p.Asp846Val)
NM_006206.6(PDGFRA):c.2695A>G (p.Met899Val) rs2110344471
NM_006206.6(PDGFRA):c.2779G>A (p.Glu927Lys) rs267600187
NM_006206.6(PDGFRA):c.2840G>A (p.Ser947Asn)
NM_006206.6(PDGFRA):c.2922T>A (p.His974Gln)
NM_006206.6(PDGFRA):c.2942G>C (p.Arg981Pro)
NM_006206.6(PDGFRA):c.2942G>T (p.Arg981Leu) rs368266633
NM_006206.6(PDGFRA):c.2947G>T (p.Asp983Tyr) rs1553906632
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.2992G>A (p.Asp998Asn) rs1724569559
NM_006206.6(PDGFRA):c.3019C>A (p.Leu1007Met) rs1348842755
NM_006206.6(PDGFRA):c.3031A>G (p.Arg1011Gly)
NM_006206.6(PDGFRA):c.3038G>A (p.Ser1013Asn) rs1307047645
NM_006206.6(PDGFRA):c.3041C>G (p.Ala1014Gly)
NM_006206.6(PDGFRA):c.3058A>G (p.Ile1020Val) rs767151323
NM_006206.6(PDGFRA):c.309_310delinsAA (p.Asn103_His104delinsLysAsn)
NM_006206.6(PDGFRA):c.3101T>C (p.Leu1034Pro) rs1444268252
NM_006206.6(PDGFRA):c.3128A>G (p.Gln1043Arg) rs1553907178
NM_006206.6(PDGFRA):c.3163A>T (p.Ser1055Cys)
NM_006206.6(PDGFRA):c.3173C>A (p.Thr1058Asn)
NM_006206.6(PDGFRA):c.3197C>A (p.Thr1066Asn)
NM_006206.6(PDGFRA):c.3209T>C (p.Ile1070Thr)
NM_006206.6(PDGFRA):c.3226A>G (p.Ile1076Val) rs750465940
NM_006206.6(PDGFRA):c.3237C>A (p.Asp1079Glu) rs758298020
NM_006206.6(PDGFRA):c.3247C>A (p.Leu1083Met)
NM_006206.6(PDGFRA):c.404A>G (p.Asp135Gly)
NM_006206.6(PDGFRA):c.40C>T (p.Leu14Phe) rs1722520036
NM_006206.6(PDGFRA):c.418G>A (p.Val140Met) rs574683248
NM_006206.6(PDGFRA):c.431A>T (p.Asp144Val)
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys) rs1449637193
NM_006206.6(PDGFRA):c.461A>G (p.Asp154Gly)
NM_006206.6(PDGFRA):c.502G>A (p.Val168Ile) rs752270672
NM_006206.6(PDGFRA):c.502G>C (p.Val168Leu) rs752270672
NM_006206.6(PDGFRA):c.502G>T (p.Val168Leu)
NM_006206.6(PDGFRA):c.517G>C (p.Asp173His) rs763718380
NM_006206.6(PDGFRA):c.541A>T (p.Thr181Ser) rs1722888310
NM_006206.6(PDGFRA):c.568G>A (p.Glu190Lys) rs1036522662
NM_006206.6(PDGFRA):c.632C>T (p.Thr211Ile) rs1560470251
NM_006206.6(PDGFRA):c.721G>A (p.Glu241Lys) rs878854832
NM_006206.6(PDGFRA):c.730G>A (p.Asp244Asn) rs1722958396
NM_006206.6(PDGFRA):c.760A>G (p.Lys254Glu) rs2110264353
NM_006206.6(PDGFRA):c.929A>G (p.His310Arg)
NM_006206.6(PDGFRA):c.94C>A (p.Pro32Thr) rs936241714
NM_006206.6(PDGFRA):c.986T>C (p.Leu329Pro) rs1162814935

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