ClinVar Miner

List of variants reported as benign for Joubert syndrome by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001077416.2(TMEM231):c.741+17T>A rs2738801
NM_017651.4(AHI1):c.1780-14C>T rs2757645
NM_017651.4(AHI1):c.3426+13G>A rs6914831
NM_023073.3(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774
NM_023073.3(CPLANE1):c.5901-3T>C rs10805625
NM_023073.3(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911
NM_023073.3(CPLANE1):c.81+20C>T rs6876576
NM_182896.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211

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