ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 1 by Mendelics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NC_000004.11:g.15589466_15589468delGAA rs794729225
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.3104G>C (p.Gly1035Ala)
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)

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