ClinVar Miner

List of variants in gene TMEM216 reported as likely benign by GeneDx

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NC_000011.10:g.61392099C>T rs78053849 0.01827
NM_001173990.3(TMEM216):c.431+118A>C rs61895954 0.01569
NM_001173990.3(TMEM216):c.*21A>G rs111371929 0.00567
NM_001173990.3(TMEM216):c.136+220C>T rs143821420 0.00440
NM_001173990.3(TMEM216):c.137-241T>C rs190895224 0.00381
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00055
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683

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