ClinVar Miner

List of variants in gene CEP41 reported as benign for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_018718.2(CEP41):c.*3526dupT rs3839655
NM_018718.2(CEP41):c.*4295G>C rs4728195
NM_018718.2(CEP41):c.*5102G>A rs1990790
NM_018718.2(CEP41):c.-5A>C rs2287371
NM_018718.2(CEP41):c.208-5A>G rs11765434
NM_018718.2(CEP41):c.718T>G (p.Cys240Gly) rs113941736

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