ClinVar Miner

List of variants in gene PRPF31 reported as pathogenic for Retinitis pigmentosa

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_015629.3(PRPF31):c.(238+1_239-1)_(420+1_421-1)dup
NM_015629.4(PRPF31):c.1067_1073+8del rs2073964950
NM_015629.4(PRPF31):c.1074-2A>G rs1314226094
NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter) rs1184467860
NM_015629.4(PRPF31):c.1118_1127del (p.Lys373fs) rs2073970897
NM_015629.4(PRPF31):c.1141G>T (p.Gly381Ter) rs2073971805
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015629.4(PRPF31):c.1275G>T (p.Gln425His) rs1600360827
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter) rs1439576531
NM_015629.4(PRPF31):c.176_177insTA (p.Met59fs) rs2073704298
NM_015629.4(PRPF31):c.178-2A>G rs2073708638
NM_015629.4(PRPF31):c.245_246del (p.Gly82fs) rs2073798559
NM_015629.4(PRPF31):c.279dup (p.Val94fs) rs1600335148
NM_015629.4(PRPF31):c.322+1G>A rs1600335289
NM_015629.4(PRPF31):c.335del (p.Lys112fs) rs1600337158
NM_015629.4(PRPF31):c.371_375del (p.Glu124fs) rs2073818085
NM_015629.4(PRPF31):c.420G>C (p.Lys140Asn) rs1555792445
NM_015629.4(PRPF31):c.539C>A (p.Ser180Ter) rs1411470197
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) rs764232082
NM_015629.4(PRPF31):c.582_583del (p.Leu195fs) rs1555792879
NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs)
NM_015629.4(PRPF31):c.689del (p.Lys230fs) rs1600342032
NM_015629.4(PRPF31):c.697+1G>A rs1600342050
NM_015629.4(PRPF31):c.81_84del (p.Glu28fs) rs2073701678
NM_015629.4(PRPF31):c.856-1G>A rs1600350656
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs) rs1600324442
NM_015629.4(PRPF31):c.953_959del (p.Gly317_Tyr318insTer) rs2073962058
NM_015629.4(PRPF31):c.954_955dup (p.Glu319fs) rs2073962186
NM_015629.4(PRPF31):c.96_102del (p.Ile32fs) rs2073702243
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) rs1555794205
NM_015629.4(PRPF31):c.997del (p.Glu333fs) rs1600355502

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