ClinVar Miner

List of variants in gene RPGRIP1L reported as uncertain significance for RPGRIP1L-Related Disorders

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_015272.5(RPGRIP1L):c.2829del (p.Val944fs) rs1567824894

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