ClinVar Miner

List of variants in gene TMEM216 reported as uncertain significance for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001173990.3(TMEM216):c.*107G>T rs535550368
NM_001173990.3(TMEM216):c.*21A>G rs111371929
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*335G>A rs886048414
NM_001173990.3(TMEM216):c.*372C>T rs565159932
NM_001173990.3(TMEM216):c.*444T>C rs116047887
NM_001173990.3(TMEM216):c.*93T>C rs746881860
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs) rs1554972400
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val) rs1287246452
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys) rs1554972406
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr) rs1554972406
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG rs1554973024
NM_001173990.3(TMEM216):c.432-10delinsAA rs1554973021
NM_001173990.3(TMEM216):c.432-10delinsAC rs1554973021
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173991.2(TMEM216):c.-242C>T rs756981776
NM_016499.5(TMEM216):c.-288G>A rs557559653
NM_016499.5(TMEM216):c.-325A>C rs886048411
NM_016499.5(TMEM216):c.-332T>C rs183785901
NM_016499.5(TMEM216):c.155dup (p.Leu53fs) rs1554972964
NM_016499.5(TMEM216):c.47-9dup rs1554972934

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