ClinVar Miner

List of variants studied for Joubert syndrome 1 by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs) rs2150435584
NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter) rs762334514
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) rs786204788

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