ClinVar Miner

List of variants in gene PRPF31 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.1126_1129dup (p.Arg377fs) rs2146445865
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015629.4(PRPF31):c.1462_1472del (p.Lys488fs) rs2146458114
NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter) rs2073709795
NM_015629.4(PRPF31):c.239-2A>G rs1600334904
NM_015629.4(PRPF31):c.358_359del (p.Lys120fs) rs1555792415
NM_015629.4(PRPF31):c.395del (p.Ala132fs) rs2073818439
NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs) rs2516145103
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_015629.4(PRPF31):c.946-2A>C rs2073961843

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