ClinVar Miner

List of variants studied for Joubert syndrome with oculorenal defect by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.3601G>A (p.Gly1201Arg) rs1392733763 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_001378615.1(CC2D2A):c.650del (p.Gly217fs) rs746415983
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133

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