ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 7

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Total variants: 3
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NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) rs797045918
NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920

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