ClinVar Miner

List of variants reported as likely benign for small intestine neoplasm by Illumina Laboratory Services, Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.2586G>C (p.Leu862=) rs3733542 0.16755
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.*2504C>T rs149631103 0.00967
NM_000222.3(KIT):c.*2017T>C rs115028437 0.00555
NM_006206.6(PDGFRA):c.201C>T (p.Ser67=) rs35805947 0.00429
NM_000222.3(KIT):c.*1220C>T rs56372445 0.00418
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=) rs138519829 0.00372
NM_000222.3(KIT):c.*1791G>A rs77842054 0.00358
NM_000222.3(KIT):c.-14T>A rs140909964 0.00332
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_006206.5(PDGFRA):c.-170C>T rs183431225 0.00310
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_000222.3(KIT):c.*888T>C rs188598702 0.00289
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_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000222.3(KIT):c.*1834A>G rs186953545 0.00125
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
NM_006206.5(PDGFRA):c.-284G>A rs145549583 0.00121
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.*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.3156G>A (p.Thr1052=) rs55996208 0.00064
NM_000222.3(KIT):c.*790A>G rs189995563 0.00059
NM_000222.3(KIT):c.-21G>T rs201778132 0.00049
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_000222.3(KIT):c.1594G>A (p.Val532Ile) rs55792975 0.00028
NM_006206.6(PDGFRA):c.*1561T>C rs145328998 0.00025
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000222.3(KIT):c.910A>G (p.Thr304Ala) rs202052259 0.00006
NM_006206.6(PDGFRA):c.*2465A>G rs78148538 0.00006
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_006206.6(PDGFRA):c.*2256G>T rs544503522 0.00004
NM_006206.6(PDGFRA):c.3039C>T (p.Ser1013=) rs138150216 0.00004
NM_006206.6(PDGFRA):c.1891C>T (p.Pro631Ser) rs199902153 0.00003
NM_006206.6(PDGFRA):c.*793C>T rs557191329 0.00001
NM_006206.6(PDGFRA):c.2266G>A (p.Asp756Asn) rs555347387 0.00001
NM_000222.3(KIT):c.*929G>A rs572274912
NM_000222.3(KIT):c.252G>T (p.Thr84=) rs56411694
NM_006206.6(PDGFRA):c.3228C>G (p.Ile1076Met) rs148629782

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