ClinVar Miner

List of variants reported as likely benign for Joubert syndrome by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00691
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00633
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00088
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263 0.00034

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