ClinVar Miner

List of variants studied for Joubert syndrome by Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_023073.3(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898
NM_024790.6(CSPP1):c.1931C>T (p.Pro644Leu) rs376210928
NM_024790.6(CSPP1):c.2146C>G (p.Arg716Gly) rs778822396
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser) rs1057519442
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg) rs556808514

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