ClinVar Miner

List of variants studied for Joubert syndrome by Rare Disease Group, Clinical Genetics, Karolinska Institutet

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) rs762771340 0.00001
NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) rs1555531363

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