ClinVar Miner

List of variants in gene TMEM216 reported by Eurofins NTD LLC (GA)

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548 0.83974
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00052
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099 0.00042
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718 0.00036
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351 0.00006
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met) rs541257103 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001173990.3(TMEM216):c.*2G>C rs375734690 0.00003
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) rs774225426 0.00001
NM_001173990.3(TMEM216):c.406G>A (p.Val136Met) rs75668329 0.00001
NM_001173990.3(TMEM216):c.*6A>G rs541341560
NM_001173990.3(TMEM216):c.-24_12del (p.Met1_Arg4del) rs1554972391
NM_001173990.3(TMEM216):c.137-7T>A rs1554972545
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.343C>G (p.Arg115Gly) rs774225426
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.432G>C (p.Arg144Ser) rs757397537
NM_001173990.3(TMEM216):c.4C>T (p.Leu2=) rs1554972407
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777

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