ClinVar Miner

List of variants in gene TMEM127 reported as likely benign for Pheochromocytoma

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln) rs746831347 0.00003
NM_017849.4(TMEM127):c.426C>T (p.Thr142=) rs552787569 0.00001
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=) rs550833832 0.00001
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys) rs140860906 0.00001
NM_017849.4(TMEM127):c.654G>A (p.Glu218=) rs776822044 0.00001
NM_017849.4(TMEM127):c.*2101_*2103del rs3832113
NM_017849.4(TMEM127):c.*2888del rs139762991
NM_017849.4(TMEM127):c.*3200GTT[2] rs141956691
NM_017849.4(TMEM127):c.*674dup rs201871634
NM_017849.4(TMEM127):c.*760del rs371530522
NM_017849.4(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr) rs369144563

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