ClinVar Miner

List of variants in gene TMEM216 studied for Meckel syndrome, type 2

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_001173990.3(TMEM216):c.*21A>G rs111371929 0.00615
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_001173990.3(TMEM216):c.*107G>T rs535550368 0.00203
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_001173990.2(TMEM216):c.-86G>A rs188478638 0.00014
NM_001173990.2(TMEM216):c.-135T>C rs183785901 0.00013
NM_001173990.2(TMEM216):c.-91G>A rs557559653 0.00009
NM_001173990.3(TMEM216):c.*525T>G rs982189283 0.00007
NM_001173990.3(TMEM216):c.*372C>T rs565159932 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_001173990.2(TMEM216):c.-264C>T rs1365742655 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001173990.3(TMEM216):c.*303C>T rs144613667 0.00003
NM_001173990.3(TMEM216):c.*93T>C rs746881860 0.00003
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg) rs35314485 0.00003
NM_001173990.3(TMEM216):c.*335G>A rs886048414 0.00002
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001173990.2(TMEM216):c.-242C>T rs756981776 0.00001
NM_001173990.3(TMEM216):c.*377T>C rs1260385076 0.00001
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001173990.2(TMEM216):c.-128A>C rs886048411
NM_001173990.2(TMEM216):c.-285A>G rs139151563
NM_001173990.3(TMEM216):c.*190A>G rs1858851501
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*393C>T rs1858858010
NM_001173990.3(TMEM216):c.*548T>A rs1858863107
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.230G>C (p.Gly77Ala) rs386833830
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.341T>G (p.Leu114Arg) rs386833831
NM_001173990.3(TMEM216):c.431+3A>G
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173990.3:c.432-11_432-10insA

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