ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_002382.5(MAX):c.289C>T (p.Gln97Ter) rs1167538050
NM_017841.2(SDHAF2):c.260+1G>A rs749527870
NM_017841.2(SDHAF2):c.261-2A>T rs745989557
NM_017841.4(SDHAF2):c.37-1G>C rs761956866
NM_017849.3(TMEM127):c.410-2A>G rs121908826
NM_017849.3(TMEM127):c.532dup (p.Tyr178fs) rs1553436874
NM_017849.3(TMEM127):c.570del (p.Thr191fs) rs1215337884
NM_017849.4(TMEM127):c.1A>T (p.Met1Leu)
NM_017849.4(TMEM127):c.512delinsGCC (p.Val171fs)

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