ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.3(SDHB):c.287-1G>C rs397516833
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs) rs1553177688
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003001.3(SDHC):c.21-3_22del rs1553261757
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter) rs764575966
NM_003001.5(SDHC):c.43C>T (p.Arg15Ter) rs201286421
NM_003002.3(SDHD):c.*(?_286)_*(387_?)del
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
NM_017849.3(TMEM127):c.308del (p.Gly103fs) rs727503490

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