ClinVar Miner

List of variants in gene RPGRIP1 reported as uncertain significance for RPGRIP1L-Related Disorders

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_020366.4(RPGRIP1):c.3405_3406insTT (p.Asp1136fs) rs1566366002
NM_020366.4(RPGRIP1):c.3499dup (p.Ala1167fs) rs1566366242

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