ClinVar Miner

List of variants studied for Joubert syndrome by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_153704.5(TMEM67):c.245C>G (p.Pro82Arg) rs772437766

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