ClinVar Miner

List of variants reported as pathogenic for Hereditary Paraganglioma-Pheochromocytoma Syndromes by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Total variants: 8
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NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842

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