ClinVar Miner

List of variants in gene RPGRIP1L reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104

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