ClinVar Miner

List of variants in gene SDHB studied for Gastrointestinal stromal tumor; Carney-Stratakis syndrome; Paragangliomas 4; Mitochondrial complex 2 deficiency, nuclear type 4

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.455C>T (p.Ser152Phe) rs200414835 0.00012
NM_003000.3(SDHB):c.317A>G (p.Asn106Ser) rs934514080 0.00006
NM_003000.3(SDHB):c.709C>T (p.Pro237Ser) rs186768244 0.00004
NM_003000.3(SDHB):c.418G>T (p.Val140Phe) rs267607032 0.00003
NM_003000.3(SDHB):c.400T>C (p.Tyr134His) rs771004483 0.00002
NM_003000.3(SDHB):c.343C>G (p.Arg115Gly) rs751000085 0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser) rs786201095 0.00001
NM_003000.3(SDHB):c.553G>A (p.Glu185Lys) rs1045881797 0.00001
NM_003000.3(SDHB):c.719T>C (p.Leu240Pro) rs1131691046 0.00001
NM_003000.3(SDHB):c.385C>T (p.Pro129Ser) rs1553177740
NM_003000.3(SDHB):c.395A>G (p.His132Arg) rs74315372
NM_003000.3(SDHB):c.424-1G>A rs1131691060
NM_003000.3(SDHB):c.46A>G (p.Thr16Ala) rs1433760506
NM_003000.3(SDHB):c.541-2A>G rs786201161
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser) rs2077978300
NM_003000.3(SDHB):c.637dup (p.Met213fs)

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