ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly) rs138866758 0.00009
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter) rs142375551 0.00008
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809

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