RS139675596 CPLANE1

Health Risk Chr 5:37165594 snv stop gained
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What This Variant Does
"CLNSIG=5
Associated Conditions
Joubert syndrome 17
Orofaciodigital syndrome type 6
Joubert syndrome 17
Orofaciodigital syndrome type 6
ClinVar Assertions (1)
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)
· 9 submitters
Population Frequencies
gnomAD ALL
100%
Other Variants in CPLANE1
rs367543061 rs367543062 rs367543064 rs367543063 rs111294855 rs606231258 rs606231259 rs606231260 rs375009168 rs606231261
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