ClinVar Miner

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

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001173990.3(TMEM216):c.*558G>A rs7607
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548
NM_001173990.3(TMEM216):c.432-1G>C rs10897158

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