ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_018718.3(CEP41):c.*1859G>T rs73152869
NM_018718.3(CEP41):c.*1931C>T rs17133175
NM_018718.3(CEP41):c.*2041G>A rs73152868
NM_018718.3(CEP41):c.*2482A>T rs189091601
NM_018718.3(CEP41):c.*3507C>T rs149385617
NM_018718.3(CEP41):c.*3765G>T rs138768326
NM_018718.3(CEP41):c.*3783T>C
NM_018718.3(CEP41):c.*3856C>T
NM_018718.3(CEP41):c.*3887C>G rs62471754
NM_018718.3(CEP41):c.*4037A>G rs7793239
NM_018718.3(CEP41):c.*4295G>C rs4728195
NM_018718.3(CEP41):c.*4595G>A
NM_018718.3(CEP41):c.*5102G>A rs1990790
NM_018718.3(CEP41):c.*655C>T
NM_018718.3(CEP41):c.*927T>C
NM_018718.3(CEP41):c.-5A>C rs2287371
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803
NM_018718.3(CEP41):c.575-12T>C rs186638258
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018718.3(CEP41):c.758-14dup

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