ClinVar Miner

List of variants reported as likely pathogenic for Gastrointestinal stromal tumor by Database of Curated Mutations (DoCM)

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.1669T>A (p.Trp557Arg) rs121913235
NM_000222.3(KIT):c.1669T>C (p.Trp557Arg) rs121913235
NM_000222.3(KIT):c.1669T>G (p.Trp557Gly) rs121913235
NM_000222.3(KIT):c.1670G>C (p.Trp557Ser) rs1057520032
NM_000222.3(KIT):c.1670_1671delinsTT (p.Trp557Phe) rs1057520035
NM_000222.3(KIT):c.1671G>C (p.Trp557Cys) rs1057520033
NM_000222.3(KIT):c.1672A>C (p.Lys558Gln) rs1057520031
NM_000222.3(KIT):c.1672A>G (p.Lys558Glu) rs1057520031
NM_000222.3(KIT):c.1674G>T (p.Lys558Asn) rs200375589
NM_000222.3(KIT):c.1675G>A (p.Val559Ile) rs121913520
NM_000222.3(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.3(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.3(KIT):c.1676T>G (p.Val559Gly) rs121913517
NM_000222.3(KIT):c.1679T>A (p.Val560Asp) rs121913521
NM_000222.3(KIT):c.1679T>G (p.Val560Gly) rs121913521
NM_000222.3(KIT):c.1679_1680inv (p.Val560Glu)
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.3(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.3(KIT):c.2009C>T (p.Thr670Ile) rs121913516
NM_000222.3(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.3(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.3(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.3(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000222.3(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.3(KIT):c.2467T>G (p.Tyr823Asp) rs1057519761
NM_000222.3(KIT):c.2485G>C (p.Ala829Pro) rs1057519713
NM_000222.3(KIT):c.2515G>A (p.Glu839Lys) rs121913509
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_006206.6(PDGFRA):c.2522_2527del (p.Arg841_Asp842del) rs121913269
NM_006206.6(PDGFRA):c.2524G>T (p.Asp842Tyr) rs121913265
NM_006206.6(PDGFRA):c.2524_2525delinsAT (p.Asp842Ile) rs121913264
NM_006206.6(PDGFRA):c.2524_2532del (p.Asp842_Met844del) rs121913262
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) rs1553906053
NM_006206.6(PDGFRA):c.2527_2538del (p.Ile843_Asp846del) rs121913267
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588

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