ClinVar Miner

List of variants in gene SDHB reported as pathogenic for Carney-Stratakis syndrome; Paragangliomas 4; Pheochromocytoma

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His) rs587782604 0.00001
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461

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