ClinVar Miner

List of variants in gene CPLANE1 reported as likely pathogenic for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.2278C>T (p.Gln760Ter)
NM_023073.3(CPLANE1):c.3104G>C (p.Gly1035Ala)
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154

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