ClinVar Miner

List of variants studied for Gastrointestinal stromal tumor by Mendelics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350 0.00006
NM_003000.3(SDHB):c.200+7A>G rs371329778 0.00005
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_000222.3(KIT):c.2848G>A (p.Val950Met) rs146374006 0.00001
NM_003000.3(SDHB):c.540+11C>T rs1160578491
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.73-21G>T rs1311107626
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys) rs1449637193

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