ClinVar Miner

List of variants in gene PRPF31 reported as likely pathogenic for Retinal dystrophy

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
NM_015629.4(PRPF31):c.1040del (p.Leu347fs) rs2073964314
NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter) rs1342475527
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1073+1G>A rs794727001
NM_015629.4(PRPF31):c.1107_1113dup (p.Arg372fs) rs2073970450
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) rs869312187
NM_015629.4(PRPF31):c.1146+1G>A rs2073971858
NM_015629.4(PRPF31):c.1406dup (p.Lys470fs) rs2074043162
NM_015629.4(PRPF31):c.183dup (p.Glu62Ter) rs2073708846
NM_015629.4(PRPF31):c.195del (p.Met65fs) rs2073709089
NM_015629.4(PRPF31):c.239-1G>A rs2073798309
NM_015629.4(PRPF31):c.239-1G>T rs2073798309
NM_015629.4(PRPF31):c.358_361del (p.Lys120fs) rs2073817965
NM_015629.4(PRPF31):c.359del (p.Lys120fs) rs1555792415
NM_015629.4(PRPF31):c.400del (p.Asp134fs) rs878853331
NM_015629.4(PRPF31):c.421-2A>C rs1600340117
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) rs764232082
NM_015629.4(PRPF31):c.605dup (p.His202fs) rs2073854068
NM_015629.4(PRPF31):c.682GCC[1] (p.Ala229del) rs2073856361
NM_015629.4(PRPF31):c.698-1G>C rs2073871791
NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs) rs2073701307
NM_015629.4(PRPF31):c.748del (p.Met250fs) rs2073873693
NM_015629.4(PRPF31):c.808dup (p.His270fs) rs2073875313
NM_015629.4(PRPF31):c.815G>T (p.Gly272Val) rs1555793203
NM_015629.4(PRPF31):c.854del (p.Pro285fs) rs2073876392
NM_015629.4(PRPF31):c.912_914dup (p.Val305dup) rs2073927586
NM_015629.4(PRPF31):c.946-2A>G rs2073961843
NM_015629.4(PRPF31):c.967G>T (p.Glu323Ter) rs878853335
NM_015629.4(PRPF31):c.994C>T (p.Gln332Ter) rs878853334

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