ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000222.3(KIT):c.1540+2T>C rs760183633 0.00001
NC_000004.11:g.(?_55569880)_(55575715_?)dup
NC_000004.11:g.(?_55569966)_(55570700_?)del
NC_000004.11:g.(?_55575570)_(55598184_?)dup
NM_000222.3(KIT):c.1232-1G>A rs55737343
NM_000222.3(KIT):c.1540+1G>A rs2109769912
NM_000222.3(KIT):c.1540+1G>T
NM_000222.3(KIT):c.1540+2del
NM_000222.3(KIT):c.1541-1G>A rs2109773622
NM_000222.3(KIT):c.1669T>C (p.Trp557Arg) rs121913235
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.3(KIT):c.1747G>A (p.Glu583Lys) rs121913680
NM_000222.3(KIT):c.1775-2A>G rs1577995761
NM_000222.3(KIT):c.1879+1G>A rs794726675
NM_000222.3(KIT):c.1965T>G (p.Asn655Lys) rs1057519708
NM_000222.3(KIT):c.2142-1G>A
NM_000222.3(KIT):c.2362-1G>A rs1578003055
NM_000222.3(KIT):c.2485G>C (p.Ala829Pro) rs1057519713
NM_000222.3(KIT):c.2494C>T (p.Pro832Ser)
NM_000222.3(KIT):c.2648T>C (p.Ile883Thr)
NM_000222.3(KIT):c.757-1G>A rs2109692864
NM_000222.3(KIT):c.757-2A>T
NM_000222.3(KIT):c.840_925+649del rs1720606396
NM_006206.6(PDGFRA):c.1664A>G (p.Tyr555Cys) rs121908589

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