ClinVar Miner

List of variants in gene RPGRIP1L reported as uncertain significance by Gharavi Laboratory, Columbia University

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015272.5(RPGRIP1L):c.1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1729A>T (p.Lys577Ter) rs1567841755
NM_015272.5(RPGRIP1L):c.1892C>T (p.Thr631Ile) rs1567841081
NM_015272.5(RPGRIP1L):c.3285dup (p.Ile1096fs) rs1567818463
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs) rs1567902051

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