ClinVar Miner

List of variants in gene RPGRIP1 reported by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201 0.00001
NM_020366.3(RPGRIP1):c.(3099+1_3100-1)_(3238+1_3239-1)del
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter) rs878853392
NM_020366.4(RPGRIP1):c.1445T>A (p.Leu482Ter) rs878853391
NM_020366.4(RPGRIP1):c.2007del (p.Val670fs) rs878853390
NM_020366.4(RPGRIP1):c.2608_2609insA (p.Leu870fs) rs878853389

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