ClinVar Miner

List of variants reported as pathogenic for Gastrointestinal stromal tumor by OMIM

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NC_000004.12:g.54727416_54727442del rs121913234
NM_000222.3(KIT):c.1649_1663del (p.Lys550_Val555delinsIle)
NM_000222.3(KIT):c.1652_1666del (p.Pro551_Val555del) rs587776804
NM_000222.3(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.3(KIT):c.1676_1681del (p.Val559_Val560del) rs121913685
NM_003001.5(SDHC):c.405+1G>A rs587776653
NM_006206.6(PDGFRA):c.1679_1693del (p.Arg560_Ser564del) rs587776795
NM_006206.6(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg) rs587776794
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp) rs121908586
NM_006206.6(PDGFRA):c.1696_1713del (p.Ser566_Glu571del) rs606231209
NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val) rs121908585
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) rs1553906053
NM_006206.6(PDGFRA):c.2533_2544del (p.His845_Asn848del) rs587776793

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