ClinVar Miner

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

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_023073.3(CPLANE1):c.2278C>T (p.Gln760Ter)
NM_023073.3(CPLANE1):c.3104G>C (p.Gly1035Ala)
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898
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.570+2T>A rs1321423759
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_023073.3(CPLANE1):c.677+1G>C rs1414913269
NM_023073.3(CPLANE1):c.7588+1G>A rs1561458987
NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter) rs1482303814
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]

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