ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 40 by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu) rs150219690 0.00004
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter) rs751583919 0.00001
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter) rs1056125920

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