ClinVar Miner

List of variants in gene PDGFRA reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 79
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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.1701A>G (p.Pro567=) rs1873778 0.96449
NM_006206.6(PDGFRA):c.3123-38C>T rs3733540 0.73955
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.1121+28C>T rs28489067 0.17553
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.368-3C>T rs55947416 0.04647
NM_006206.6(PDGFRA):c.1644T>C (p.Ile548=) rs115085731 0.00246
NM_006206.6(PDGFRA):c.1122G>C (p.Arg374Ser) rs61735622 0.00183
NM_006206.6(PDGFRA):c.2899C>G (p.Leu967Val) rs140943817 0.00150
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_006206.6(PDGFRA):c.2421G>A (p.Glu807=) rs144920596 0.00075
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.802T>A (p.Ser268Thr) rs140245841 0.00056
NM_006206.6(PDGFRA):c.*39C>T rs55681376 0.00055
NM_006206.6(PDGFRA):c.1127G>A (p.Arg376Gln) rs41279521 0.00044
NM_006206.6(PDGFRA):c.2306A>T (p.Lys769Met) rs373061721 0.00032
NM_006206.6(PDGFRA):c.1365-10T>G rs371291000 0.00026
NM_006206.6(PDGFRA):c.1891+10C>T rs190242331 0.00024
NM_006206.6(PDGFRA):c.2691C>T (p.Pro897=) rs143711174 0.00019
NM_006206.6(PDGFRA):c.231C>T (p.Asn77=) rs143939281 0.00017
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.1631T>C (p.Val544Ala) rs181854060 0.00012
NM_006206.6(PDGFRA):c.466G>A (p.Glu156Lys) rs760631068 0.00012
NM_006206.6(PDGFRA):c.1896G>A (p.Thr632=) rs141835121 0.00011
NM_006206.6(PDGFRA):c.2880+5G>A rs370128852 0.00011
NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met) rs147982027 0.00010
NM_006206.6(PDGFRA):c.1319C>T (p.Thr440Met) rs143344944 0.00009
NM_006206.6(PDGFRA):c.248C>T (p.Thr83Met) rs779332376 0.00009
NM_006206.6(PDGFRA):c.1494C>T (p.Ala498=) rs200434193 0.00008
NM_006206.6(PDGFRA):c.738A>G (p.Gln246=) rs377699966 0.00008
NM_006206.6(PDGFRA):c.2760C>T (p.His920=) rs368291181 0.00007
NM_006206.6(PDGFRA):c.1388C>G (p.Thr463Ser) rs375047532 0.00006
NM_006206.6(PDGFRA):c.2469C>T (p.Asn823=) rs758069142 0.00006
NM_006206.6(PDGFRA):c.2742G>C (p.Arg914=) rs56384252 0.00006
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_006206.6(PDGFRA):c.2973C>T (p.Val991=) rs755195836 0.00005
NM_006206.6(PDGFRA):c.1274A>G (p.His425Arg) rs769631321 0.00004
NM_006206.6(PDGFRA):c.273G>A (p.Ser91=) rs112372833 0.00004
NM_006206.6(PDGFRA):c.3039C>T (p.Ser1013=) rs138150216 0.00004
NM_006206.6(PDGFRA):c.3126G>A (p.Ser1042=) rs141904599 0.00004
NM_006206.6(PDGFRA):c.3211G>A (p.Asp1071Asn) rs376544204 0.00004
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.21G>A (p.Ala7=) rs200090515 0.00003
NM_006206.6(PDGFRA):c.967C>G (p.Gln323Glu) rs138296072 0.00003
NM_006206.6(PDGFRA):c.1323G>A (p.Pro441=) rs760740153 0.00002
NM_006206.6(PDGFRA):c.1822G>A (p.Val608Ile) rs138740193 0.00002
NM_006206.6(PDGFRA):c.2553G>A (p.Ser851=) rs374372636 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.1352A>C (p.Lys451Thr) rs1178568199 0.00001
NM_006206.6(PDGFRA):c.1461T>C (p.Arg487=) rs751747399 0.00001
NM_006206.6(PDGFRA):c.1777C>T (p.Leu593=) rs780059483 0.00001
NM_006206.6(PDGFRA):c.2562+4C>T rs374253258 0.00001
NM_006206.6(PDGFRA):c.2563-8C>T rs1060504247 0.00001
NM_006206.6(PDGFRA):c.2887G>A (p.Glu963Lys) rs756581500 0.00001
NM_006206.6(PDGFRA):c.-13+10673A>G
NM_006206.6(PDGFRA):c.-13+10679C>T
NM_006206.6(PDGFRA):c.-13+5069G>A
NM_006206.6(PDGFRA):c.1137A>G (p.Leu379=) rs746195598
NM_006206.6(PDGFRA):c.1494C>A (p.Ala498=) rs200434193
NM_006206.6(PDGFRA):c.1642A>G (p.Ile548Val) rs1060501500
NM_006206.6(PDGFRA):c.2238A>G (p.Leu746=)
NM_006206.6(PDGFRA):c.2563-7C>T
NM_006206.6(PDGFRA):c.2574C>G (p.Pro858=) rs771421611
NM_006206.6(PDGFRA):c.2953G>A (p.Asp985Asn) rs1060501516
NM_006206.6(PDGFRA):c.2988_2990del (p.Glu997del) rs781561737
NM_006206.6(PDGFRA):c.371C>T (p.Pro124Leu) rs918962982
NM_006206.6(PDGFRA):c.390T>G (p.Pro130=) rs1391618202
NM_006206.6(PDGFRA):c.405T>C (p.Asp135=) rs766197882
NM_006206.6(PDGFRA):c.629C>A (p.Ala210Glu) rs761446758
NM_006206.6(PDGFRA):c.720T>C (p.Asn240=) rs768535525
NM_006206.6(PDGFRA):c.900A>G (p.Lys300=) rs140632903

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