ClinVar Miner

List of variants in gene PDGFRA reported as benign for small intestine neoplasm

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 61
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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.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_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_006206.6(PDGFRA):c.1644T>C (p.Ile548=) rs115085731 0.00246
NM_006206.6(PDGFRA):c.2230C>T (p.Pro744Ser) rs61735626 0.00206
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.2899C>G (p.Leu967Val) rs140943817 0.00150
NM_006206.6(PDGFRA):c.*51G>A rs141346675 0.00148
NM_006206.6(PDGFRA):c.2282T>G (p.Leu761Arg) rs148654387 0.00126
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_006206.6(PDGFRA):c.3228C>T (p.Ile1076=) rs148629782 0.00076
NM_006206.6(PDGFRA):c.2421G>A (p.Glu807=) rs144920596 0.00075
NM_006206.6(PDGFRA):c.3156G>A (p.Thr1052=) rs55996208 0.00064
NM_006206.6(PDGFRA):c.1892-17A>G rs147313293 0.00062
NM_006206.6(PDGFRA):c.2871A>G (p.Gln957=) rs752373446 0.00036
NM_006206.6(PDGFRA):c.420G>A (p.Val140=) rs112117596 0.00021
NM_006206.6(PDGFRA):c.*691G>A rs117287047 0.00020
NM_006206.6(PDGFRA):c.2323+13A>G rs143491825 0.00020
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.2205G>A (p.Lys735=) rs758609201 0.00009
NM_006206.6(PDGFRA):c.*479C>A rs117886200 0.00008
NM_006206.6(PDGFRA):c.1296G>A (p.Thr432=) rs374217334 0.00007
NM_006206.6(PDGFRA):c.2003-18C>T rs200660844 0.00006
NM_006206.6(PDGFRA):c.*1939T>C rs368579295 0.00004
NM_006206.6(PDGFRA):c.1787-20A>G rs181960276 0.00004
NM_006206.6(PDGFRA):c.3039C>T (p.Ser1013=) rs138150216 0.00004
NM_006206.6(PDGFRA):c.*1110_*1111del rs34529347
NM_006206.6(PDGFRA):c.*1137G>A rs55710909
NM_006206.6(PDGFRA):c.*374A>C rs3690
NM_006206.6(PDGFRA):c.-106AG[1] rs1799767
NM_006206.6(PDGFRA):c.1122-2del
NM_006206.6(PDGFRA):c.1122-6del rs1560475667
NM_006206.6(PDGFRA):c.1644T>A (p.Ile548=) rs115085731
NM_006206.6(PDGFRA):c.1653+20del rs2110297275
NM_006206.6(PDGFRA):c.2324-7del rs2110335296
NM_006206.6(PDGFRA):c.2774+15del
NM_006206.6(PDGFRA):c.2881-25_2881-17del rs750095634
NM_006206.6(PDGFRA):c.3122+13del rs2110349210
NM_006206.6(PDGFRA):c.629-5dup rs578115976
NM_006206.6(PDGFRA):c.759+16del rs1360403895

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