ClinVar Miner

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

Included ClinVar conditions (3):

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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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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