ClinVar Miner

List of variants reported as likely pathogenic for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Total variants: 27
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HGVS dbSNP
NM_002382.5(MAX):c.289C>T (p.Gln97Ter)
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.286G>A (p.Gly96Ser) rs587782243
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.287-3C>G rs1553177772
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.348_352del (p.Ile117fs) rs1480267715
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.445_446insTATGG (p.Gln149fs) rs1553177688
NM_003000.2(SDHB):c.540G>A (p.Leu180=) rs528442805
NM_003000.2(SDHB):c.566G>T (p.Cys189Phe) rs876658540
NM_003000.2(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.2(SDHB):c.575G>A (p.Cys192Tyr) rs397516835
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003001.3(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003001.3(SDHC):c.21-3_22del rs1553261757
NM_003001.3(SDHC):c.405+1G>A rs587776653
NM_003002.3(SDHD):c.*(?_286)_*(387_?)del
NM_003002.4(SDHD):c.298_301del (p.Thr100fs) rs786203067
NM_003002.4(SDHD):c.53dup (p.Leu19fs) rs886041237
NM_017841.2(SDHAF2):c.260+1G>A rs749527870
NM_017841.2(SDHAF2):c.261-2A>T
NM_017849.3(TMEM127):c.308del (p.Gly103fs) rs727503490
NM_017849.3(TMEM127):c.410-2A>G rs121908826

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