ClinVar Miner

List of variants in gene PDGFRA studied for immune system disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.3222T>C (p.Asp1074=) rs7685117 0.99715
NM_006206.6(PDGFRA):c.*1511C>A rs1565664 0.99713
NM_006206.6(PDGFRA):c.*78A>G rs7680422 0.99696
NM_006206.6(PDGFRA):c.*2387T>G rs10034498 0.98684
NM_006206.6(PDGFRA):c.1701A>G (p.Pro567=) rs1873778 0.96449
NM_006206.6(PDGFRA):c.2472C>T (p.Val824=) rs2228230 0.20293
NM_006206.6(PDGFRA):c.612T>C (p.Asn204=) rs2229307 0.17867
NM_006206.6(PDGFRA):c.939T>G (p.Gly313=) rs4358459 0.17704
NM_006206.6(PDGFRA):c.1809G>A (p.Ala603=) rs10028020 0.17498
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_006206.6(PDGFRA):c.*832T>C rs12511976 0.06370
NM_006206.6(PDGFRA):c.368-3C>T rs55947416 0.04647
NM_006206.6(PDGFRA):c.932-4A>G rs78405886 0.03447
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207 0.01633
NM_006206.6(PDGFRA):c.*1429C>T rs56288633 0.01364
NM_006206.6(PDGFRA):c.*2504C>T rs149631103 0.00967
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_006206.6(PDGFRA):c.1320G>A (p.Thr440=) rs56026726 0.00722
NM_006206.6(PDGFRA):c.672G>A (p.Val224=) rs151259376 0.00707
NM_006206.6(PDGFRA):c.*2559G>A rs138584193 0.00503
NM_006206.6(PDGFRA):c.201C>T (p.Ser67=) rs35805947 0.00429
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=) rs138519829 0.00372
NM_006206.5(PDGFRA):c.-170C>T rs183431225 0.00310
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_006206.6(PDGFRA):c.996C>T (p.Val332=) rs142498442 0.00204
NM_006206.6(PDGFRA):c.1122G>C (p.Arg374Ser) rs61735622 0.00183
NM_006206.6(PDGFRA):c.*51G>A rs141346675 0.00148
NM_006206.5(PDGFRA):c.-284G>A rs145549583 0.00121
NM_006206.6(PDGFRA):c.*2336T>C rs574665425 0.00121
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_006206.6(PDGFRA):c.*534A>G rs566508858 0.00099
NM_006206.6(PDGFRA):c.*2538G>A rs377126983 0.00095
NM_006206.6(PDGFRA):c.*2873C>T rs147418921 0.00087
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_006206.6(PDGFRA):c.*2100A>G rs192159089 0.00083
NM_006206.6(PDGFRA):c.*2546A>G rs112690644 0.00081
NM_006206.6(PDGFRA):c.3228C>T (p.Ile1076=) rs148629782 0.00076
NM_006206.5(PDGFRA):c.*2973+14G>A rs137930765 0.00074
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_006206.6(PDGFRA):c.3156G>A (p.Thr1052=) rs55996208 0.00064
NM_006206.6(PDGFRA):c.*2496A>G rs184179322 0.00058
NM_006206.6(PDGFRA):c.1280C>T (p.Ser427Leu) rs61735621 0.00056
NM_006206.6(PDGFRA):c.*39C>T rs55681376 0.00055
NM_006206.6(PDGFRA):c.*2970G>T rs752208389 0.00035
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_006206.5(PDGFRA):c.-318G>A rs533627398 0.00030
NM_006206.6(PDGFRA):c.276G>A (p.Ala92=) rs140725151 0.00030
NM_006206.6(PDGFRA):c.*332G>A rs750090756 0.00029
NM_006206.6(PDGFRA):c.-13+12G>T rs760170961 0.00029
NM_006206.6(PDGFRA):c.*1249C>T rs777258903 0.00026
NM_006206.6(PDGFRA):c.*1561T>C rs145328998 0.00025
NM_006206.6(PDGFRA):c.*1928G>C rs748063948 0.00025
NM_006206.6(PDGFRA):c.*2121C>A rs557865852 0.00024
NM_006206.6(PDGFRA):c.801A>G (p.Pro267=) rs55966236 0.00024
NM_006206.6(PDGFRA):c.*2142G>A rs914482961 0.00020
NM_006206.6(PDGFRA):c.*2186G>A rs569793596 0.00020
NM_006206.6(PDGFRA):c.*691G>A rs117287047 0.00020
NM_006206.6(PDGFRA):c.*1778C>A rs182602738 0.00019
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala) rs181854060 0.00012
NM_006206.6(PDGFRA):c.*2604G>T rs547925170 0.00011
NM_006206.6(PDGFRA):c.2965A>G (p.Ile989Val) rs145019788 0.00011
NM_006206.6(PDGFRA):c.17C>T (p.Pro6Leu) rs754092062 0.00009
NM_006206.6(PDGFRA):c.*479C>A rs117886200 0.00008
NM_006206.6(PDGFRA):c.*1971C>T rs886059459 0.00006
NM_006206.6(PDGFRA):c.*2110C>T rs777478254 0.00006
NM_006206.6(PDGFRA):c.*2465A>G rs78148538 0.00006
NM_006206.6(PDGFRA):c.*936A>C rs886059452 0.00006
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=) rs56384252 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.*2079A>G rs187487079 0.00005
NM_006206.6(PDGFRA):c.*1809G>C rs565989173 0.00004
NM_006206.6(PDGFRA):c.*1939T>C rs368579295 0.00004
NM_006206.6(PDGFRA):c.*2111G>A rs554089461 0.00004
NM_006206.6(PDGFRA):c.*2256G>T rs544503522 0.00004
NM_006206.6(PDGFRA):c.*72C>A rs886059449 0.00004
NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg) rs769631321 0.00004
NM_006206.6(PDGFRA):c.1450G>A (p.Val484Met) rs149031291 0.00004
NM_006206.6(PDGFRA):c.1970T>C (p.Ile657Thr) rs969139366 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006206.6(PDGFRA):c.3039C>T (p.Ser1013=) rs138150216 0.00004
NM_006206.6(PDGFRA):c.838G>T (p.Ala280Ser) rs150927351 0.00004
NM_006206.6(PDGFRA):c.1891C>T (p.Pro631Ser) rs199902153 0.00003
NM_006206.6(PDGFRA):c.*136G>A rs886059450 0.00002
NM_006206.6(PDGFRA):c.1673G>A (p.Arg558His) rs761924292 0.00002
NM_006206.6(PDGFRA):c.2811G>A (p.Pro937=) rs190260215 0.00002
NM_006206.6(PDGFRA):c.*1102T>G rs1577757624 0.00001
NM_006206.6(PDGFRA):c.*1195A>C rs1219021519 0.00001
NM_006206.6(PDGFRA):c.*1334G>A rs1278770606 0.00001
NM_006206.6(PDGFRA):c.*1521C>T rs886059457 0.00001
NM_006206.6(PDGFRA):c.*1706T>C rs886059458 0.00001
NM_006206.6(PDGFRA):c.*2475C>T rs886059460 0.00001
NM_006206.6(PDGFRA):c.*2655A>G rs910994718 0.00001
NM_006206.6(PDGFRA):c.*2840A>G rs886059462 0.00001
NM_006206.6(PDGFRA):c.*505A>G rs373134586 0.00001
NM_006206.6(PDGFRA):c.*793C>T rs557191329 0.00001
NM_006206.6(PDGFRA):c.1122-6T>A rs754623338 0.00001
NM_006206.6(PDGFRA):c.1471G>A (p.Ala491Thr) rs563016888 0.00001
NM_006206.6(PDGFRA):c.1658C>T (p.Pro553Leu) rs1060501502 0.00001
NM_006206.6(PDGFRA):c.1794C>T (p.Val598=) rs1218651787 0.00001
NM_006206.6(PDGFRA):c.2003-7C>T rs886059447 0.00001
NM_006206.6(PDGFRA):c.2232C>T (p.Pro744=) rs1060504254 0.00001
NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn) rs555347387 0.00001
NM_006206.6(PDGFRA):c.2881-8G>A rs778161572 0.00001
NM_006206.6(PDGFRA):c.2986G>A (p.Glu996Lys) rs779173667 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.345G>A (p.Arg115=) rs778510648 0.00001
NM_006206.5(PDGFRA):c.-284G>T rs145549583
NM_006206.6(PDGFRA):c.*1039A>G rs981481475
NM_006206.6(PDGFRA):c.*1050C>T rs1560497216
NM_006206.6(PDGFRA):c.*1109_*1111del rs34529347
NM_006206.6(PDGFRA):c.*1110_*1111del rs34529347
NM_006206.6(PDGFRA):c.*1111del rs34529347
NM_006206.6(PDGFRA):c.*1112_*1113del rs886059456
NM_006206.6(PDGFRA):c.*1133T>C rs1577757730
NM_006206.6(PDGFRA):c.*1137G>A rs55710909
NM_006206.6(PDGFRA):c.*1821A>C rs187821520
NM_006206.6(PDGFRA):c.*2226C>A rs556595868
NM_006206.6(PDGFRA):c.*2281C>A rs1724934694
NM_006206.6(PDGFRA):c.*2494C>A rs886059461
NM_006206.6(PDGFRA):c.*2856A>G rs886059463
NM_006206.6(PDGFRA):c.*374A>C rs3690
NM_006206.6(PDGFRA):c.*374A>T rs3690
NM_006206.6(PDGFRA):c.*574_*575del rs886059451
NM_006206.6(PDGFRA):c.*590C>A rs993682652
NM_006206.6(PDGFRA):c.*791A>T rs1724865504
NM_006206.6(PDGFRA):c.*970CAAA[1] rs757111915
NM_006206.6(PDGFRA):c.*998C>G rs1006360272
NM_006206.6(PDGFRA):c.-106AG[1] rs1799767
NM_006206.6(PDGFRA):c.1365-12T>C rs886059445
NM_006206.6(PDGFRA):c.1596G>C (p.Leu532=) rs1723603076
NM_006206.6(PDGFRA):c.1651C>A (p.Gln551Lys) rs770950644
NM_006206.6(PDGFRA):c.167G>C (p.Ser56Thr) rs587778601
NM_006206.6(PDGFRA):c.1784T>C (p.Leu595Pro) rs1723641220
NM_006206.6(PDGFRA):c.1821G>C (p.Val607=) rs886059446
NM_006206.6(PDGFRA):c.1998G>C (p.Lys666Asn) rs1723832515
NM_006206.6(PDGFRA):c.2040A>C (p.Gly680=) rs773679384
NM_006206.6(PDGFRA):c.219T>C (p.Asn73=) rs886059443
NM_006206.6(PDGFRA):c.2221C>T (p.Gln741Ter) rs1724006429
NM_006206.6(PDGFRA):c.2429C>G (p.Ala810Gly)
NM_006206.6(PDGFRA):c.2574C>A (p.Pro858=) rs771421611
NM_006206.6(PDGFRA):c.2674+6G>A rs886059448
NM_006206.6(PDGFRA):c.2975C>T (p.Thr992Ile)
NM_006206.6(PDGFRA):c.3195G>A (p.Glu1065=) rs1724822643
NM_006206.6(PDGFRA):c.3228C>G (p.Ile1076Met) rs148629782
NM_006206.6(PDGFRA):c.480C>T (p.Thr160=) rs1461385164
NM_006206.6(PDGFRA):c.577G>A (p.Val193Ile) rs774431464
NM_006206.6(PDGFRA):c.853A>G (p.Ser285Gly) rs541057765
NM_006206.6(PDGFRA):c.878G>A (p.Arg293His) rs373948582
NM_006206.6(PDGFRA):c.954A>G (p.Lys318=) rs886059444
NM_006206.6(PDGFRA):c.995T>C (p.Val332Ala) rs878854837

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