ClinVar Miner

List of variants studied for Retinitis pigmentosa 11 by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.893A>G (p.Lys298Arg) rs763668481 0.00001
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1212_1221del (p.Val407fs) rs2146450161
NM_015629.4(PRPF31):c.1276-2del rs2146450721
NM_015629.4(PRPF31):c.136del (p.Asp46fs) rs2146393019
NM_015629.4(PRPF31):c.238+1_238+7del rs2146394271
NM_015629.4(PRPF31):c.239-1G>A rs2073798309
NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter) rs2146418999
NM_015629.4(PRPF31):c.527+3A>G rs587776590
NM_015629.4(PRPF31):c.541_551GAG[3]CTCCGAGGAGGAGCT[1] (p.Glu185fs) rs2146420554
NM_015629.4(PRPF31):c.633del (p.Met212fs) rs2146421305
NM_015629.4(PRPF31):c.66_79dup (p.Glu27fs) rs2146392668
NM_015629.4(PRPF31):c.855+5G>A rs2146426154
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) rs1555794205

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