ClinVar Miner

List of variants studied for Joubert syndrome with ocular defect by Mendelics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195

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