ClinVar Miner

List of variants studied for Joubert syndrome 2

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Total variants: 82
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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.211G>T (p.Val71Leu) rs57932685 0.00251
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_001173990.3(TMEM216):c.113A>G (p.Glu38Gly) rs568253718 0.00036
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.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_001173990.2(TMEM216):c.-264C>T rs1365742655 0.00004
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln) rs368617773 0.00004
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.*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.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939 0.00003
NM_001173990.3(TMEM216):c.*335G>A rs886048414 0.00002
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val) rs1441727203 0.00002
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=) rs147267631 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.11G>A (p.Arg4Gln) rs548299486 0.00001
NM_001173990.3(TMEM216):c.191del (p.Leu64fs) rs1858737558 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) rs528921796 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys) rs774225426 0.00001
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr) rs367737418 0.00001
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp) rs528271337 0.00001
NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter) rs1304320833 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.*6A>G rs541341560
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.137-2A>G rs1858735439
NM_001173990.3(TMEM216):c.137-7T>C rs1554972545
NM_001173990.3(TMEM216):c.193_194delinsA (p.Leu65fs)
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
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.222_224delinsA (p.Phe76fs)
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.229+10G>A rs1590642512
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>C
NM_001173990.3(TMEM216):c.230-10T>C rs1858829914
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.295T>C (p.Ser99Pro) rs1238443381
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
NM_001173990.3(TMEM216):c.34+1G>A
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr) rs1554972409
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
NM_001173990.3:c.432-11_432-10insA

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