ClinVar Miner

List of variants studied for Joubert syndrome by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211 0.07857
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00721
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
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 0.00090
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995 0.00036
NM_001384732.1(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263

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