ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 1 by Rare Disease Group, Clinical Genetics,Karolinska Institutet

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) rs1555531363
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) rs762771340
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882

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