ClinVar Miner

List of variants in gene TMEM216 reported as likely benign for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001173990.3(TMEM216):c.229+10G>A rs1590642512
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) rs528921796
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.51C>T (p.Ser17=) rs548233683

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