ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome and related disorders by Revvity Omics, Revvity

Included ClinVar conditions (41):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001134831.2(AHI1):c.1094dup (p.Met365fs) rs2128081478
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs) rs2129561783
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132

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