ClinVar Miner

List of variants in gene TMEM127 reported as likely pathogenic for Hereditary Paraganglioma-Pheochromocytoma Syndromes

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Total variants: 6
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NM_017849.3(TMEM127):c.308del (p.Gly103fs) rs727503490
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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