ClinVar Miner

List of variants studied for Jeune syndrome by Clinical Genetics and Genomics, Karolinska University Hospital

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016008.4(DYNC2LI1):c.389T>C (p.Leu130Pro) rs528201408 0.00011
NM_001375405.1(CEP120):c.2917C>T (p.Arg973Ter)
NM_016008.4(DYNC2LI1):c.1008C>A (p.Tyr336Ter)

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