ClinVar Miner

List of variants reported as uncertain significance for Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas 1; Mitochondrial complex 2 deficiency, nuclear type 3

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003002.4(SDHD):c.148C>T (p.His50Tyr)	rs779249550	0.00001
NM_003002.4(SDHD):c.431A>G (p.Tyr144Cys)	rs745732631	0.00001
NM_003002.4(SDHD):c.175T>C (p.Ser59Pro)	rs1592780294

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