ClinVar Miner

List of variants reported as benign for Gastrointestinal stromal tumor by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 86
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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.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.2586G>C (p.Leu862=) rs3733542 0.16755
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_000222.3(KIT):c.*217G>A rs17084733 0.10193
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_006206.6(PDGFRA):c.368-3C>T rs55947416 0.04647
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_000222.3(KIT):c.67+4G>A rs72550820 0.00969
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_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.201C>T (p.Ser67=) rs35805947 0.00429
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=) rs138519829 0.00372
NM_000222.3(KIT):c.532G>A (p.Ala178Thr) rs115585711 0.00342
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
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_000222.3(KIT):c.1120G>A (p.Val374Ile) rs73137716 0.00218
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser) rs72549294 0.00215
NM_000222.3(KIT):c.2361T>C (p.Asn787=) rs140912933 0.00207
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_000222.3(KIT):c.2622G>A (p.Pro874=) rs55817813 0.00188
NM_006206.6(PDGFRA):c.1122G>C (p.Arg374Ser) rs61735622 0.00183
NM_000222.3(KIT):c.123A>T (p.Pro41=) rs72549300 0.00182
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_006206.6(PDGFRA):c.2899C>G (p.Leu967Val) rs140943817 0.00150
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_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000222.3(KIT):c.67+12C>T rs374618962 0.00031
NM_000222.3(KIT):c.925+9C>T rs201405378 0.00029
NM_006206.6(PDGFRA):c.420G>A (p.Val140=) rs112117596 0.00021
NM_006206.6(PDGFRA):c.2323+13A>G rs143491825 0.00020
NM_000222.3(KIT):c.251C>T (p.Thr84Met) rs201872586 0.00019
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_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000222.3(KIT):c.2234-8C>T rs199817515 0.00009
NM_006206.6(PDGFRA):c.2205G>A (p.Lys735=) rs758609201 0.00009
NM_000222.3(KIT):c.2262C>T (p.Pro754=) rs200112919 0.00007
NM_006206.6(PDGFRA):c.1296G>A (p.Thr432=) rs374217334 0.00007
NM_000222.3(KIT):c.372G>A (p.Leu124=) rs775690281 0.00006
NM_006206.6(PDGFRA):c.2003-18C>T rs200660844 0.00006
NM_000222.3(KIT):c.1290A>G (p.Ala430=) rs55966164 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_000222.3(KIT):c.735G>A (p.Thr245=) rs150150449 0.00003
NM_000222.3(KIT):c.1137A>G (p.Leu379=) rs773723931 0.00002
NM_000222.3(KIT):c.1115+16del rs761590943
NM_000222.3(KIT):c.1232-8dup
NM_000222.3(KIT):c.1346+17del rs2109761509
NM_000222.3(KIT):c.1347-12del
NM_000222.3(KIT):c.1991-16del
NM_000222.3(KIT):c.252G>A (p.Thr84=) rs56411694
NM_000222.3(KIT):c.252G>T (p.Thr84=) rs56411694
NM_000222.3(KIT):c.337+14T>G
NM_000222.3(KIT):c.338-17del
NM_000222.3(KIT):c.620-9del
NM_000222.3(KIT):c.620-9dup
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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