ClinVar Miner

List of variants reported as benign for Gastrointestinal stromal tumor by Illumina Laboratory Services, Illumina

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Total variants: 41
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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_000222.3(KIT):c.*1704G>T rs8022 0.16223
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_000222.3(KIT):c.*149C>T rs2213181 0.11143
NM_006206.6(PDGFRA):c.*832T>C rs12511976 0.06370
NM_006206.6(PDGFRA):c.932-4A>G rs78405886 0.03447
NM_000222.3(KIT):c.1638A>G (p.Lys546=) rs55986963 0.02258
NM_000222.3(KIT):c.2394C>T (p.Ile798=) rs55789615 0.02125
NM_000222.3(KIT):c.2847C>T (p.Pro949=) rs56288823 0.01843
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207 0.01633
NM_006206.6(PDGFRA):c.*1429C>T rs56288633 0.01364
NM_000222.3(KIT):c.1119C>T (p.Tyr373=) rs72549293 0.00964
NM_000222.3(KIT):c.1794A>T (p.Gly598=) rs72549292 0.00952
NM_000222.3(KIT):c.*66T>G rs112972811 0.00939
NM_000222.3(KIT):c.*1241G>A rs114377961 0.00931
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_000222.3(KIT):c.*1524A>G rs17084736 0.00815
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_000222.3(KIT):c.*352A>G rs149336515 0.00319
NM_000222.3(KIT):c.1120G>A (p.Val374Ile) rs73137716 0.00218
NM_000222.3(KIT):c.2622G>A (p.Pro874=) rs55817813 0.00188
NM_000222.3(KIT):c.123A>T (p.Pro41=) rs72549300 0.00182
NM_006206.6(PDGFRA):c.*51G>A rs141346675 0.00148
NM_006206.6(PDGFRA):c.1731G>A (p.Pro577=) rs55830582 0.00105
NM_006206.6(PDGFRA):c.*691G>A rs117287047 0.00020
NM_006206.6(PDGFRA):c.*479C>A rs117886200 0.00008
NM_006206.6(PDGFRA):c.*1939T>C rs368579295 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

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