ClinVar Miner

List of variants reported as uncertain significance for Joubert syndrome with ocular defect by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004

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