ClinVar Miner

List of variants in gene CPLANE1 reported as likely pathogenic for Joubert syndrome 17

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Total variants: 5
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HGVS dbSNP
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_023073.3(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162
NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter) rs1482303814

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