ClinVar Miner

List of variants in gene PRPF31 reported by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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Gene type:
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.681G>A (p.Thr227=) rs141325097 0.00017
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln) rs201806410 0.00012
NM_015629.4(PRPF31):c.251T>C (p.Val84Ala) rs369049017 0.00005
NM_015629.4(PRPF31):c.1074-2A>G rs1314226094 0.00003
NM_015629.4(PRPF31):c.1480A>G (p.Ser494Gly) rs1286625081 0.00002
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) rs1411083098 0.00001
NC_000019.10:g.(54129310_54131513)_(54131513_?)del
NC_000019.10:g.(?_54118270)_(54118634_54121859)del
NC_000019.10:g.(?_54118278)_(54126618_54128072)del
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1067_1073+8del rs2073964950
NM_015629.4(PRPF31):c.1074-2A>T rs1314226094
NM_015629.4(PRPF31):c.1087A>T (p.Lys363Ter)
NM_015629.4(PRPF31):c.1126_1129dup (p.Arg377fs) rs2146445865
NM_015629.4(PRPF31):c.1141G>A (p.Gly381Arg)
NM_015629.4(PRPF31):c.1146+5G>T
NM_015629.4(PRPF31):c.1146G>C (p.Glu382Asp)
NM_015629.4(PRPF31):c.1146G>T (p.Glu382Asp) rs2146445996
NM_015629.4(PRPF31):c.1200del (p.Lys401fs)
NM_015629.4(PRPF31):c.1210del (p.Ser404fs)
NM_015629.4(PRPF31):c.1225C>T (p.Gln409Ter) rs2516206256
NM_015629.4(PRPF31):c.1231_1232del (p.Gln411fs) rs2516206308
NM_015629.4(PRPF31):c.1248C>T (p.Thr416=)
NM_015629.4(PRPF31):c.1299_1300del (p.Val434fs)
NM_015629.4(PRPF31):c.1374+1G>C
NM_015629.4(PRPF31):c.1499G>C (p.Ter500Ser) rs2516224495
NM_015629.4(PRPF31):c.156_160del (p.Lys53fs)
NM_015629.4(PRPF31):c.180del (p.Phe60fs)
NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter) rs2073709795
NM_015629.4(PRPF31):c.238+1G>A rs779270349
NM_015629.4(PRPF31):c.279dup (p.Val94fs) rs1600335148
NM_015629.4(PRPF31):c.359dup (p.Arg121fs) rs1555792415
NM_015629.4(PRPF31):c.376G>T (p.Glu126Ter)
NM_015629.4(PRPF31):c.421-2A>G rs1600340117
NM_015629.4(PRPF31):c.421-58_434del
NM_015629.4(PRPF31):c.421G>T (p.Glu141Ter)
NM_015629.4(PRPF31):c.455_462del (p.Asn152fs)
NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter) rs2146418999
NM_015629.4(PRPF31):c.527+1G>T rs1057517982
NM_015629.4(PRPF31):c.528-39_531del rs2146420160
NM_015629.4(PRPF31):c.528-41_528-9del
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) rs764232082
NM_015629.4(PRPF31):c.646G>A (p.Ala216Thr)
NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs) rs2516145103
NM_015629.4(PRPF31):c.695T>G (p.Met232Arg)
NM_015629.4(PRPF31):c.698-1G>A rs2073871791
NM_015629.4(PRPF31):c.722T>C (p.Leu241Pro)
NM_015629.4(PRPF31):c.793A>G (p.Thr265Ala)
NM_015629.4(PRPF31):c.7_8del (p.Leu3fs) rs2516077994
NM_015629.4(PRPF31):c.831T>A (p.Ser277Arg)
NM_015629.4(PRPF31):c.845_855+1del rs2516158865
NM_015629.4(PRPF31):c.877del (p.Arg293fs)
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015629.4(PRPF31):c.908C>A (p.Ala303Asp)
NM_015629.4:c.(1146+1_1147-1)_(1374+1_1375-1)del
NM_015629.4:c.(238+1_239-1)_(1374+1_1375-1)del
NM_015629.4:c.(238+1_239-1)_(855+1_856-1)del
NM_015629.4:c.(855+1_856-1)_(945+1_946-1)del

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