ClinVar Miner

List of variants in gene RPGRIP1 reported as pathogenic for Leber congenital amaurosis

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Total variants: 7
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HGVS dbSNP
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113
NM_020366.3(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354
NM_020366.3(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.3(RPGRIP1):c.564A>G (p.Glu188=) rs574462207

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