ClinVar Miner

List of variants studied for Joubert syndrome 1 by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_001044385.3(TMEM237):c.62del (p.Pro21fs)
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_023073.3(CPLANE1):c.2278C>T (p.Gln760Ter)
NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) rs786204788

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