ClinVar Miner

List of variants in gene PRPF31 reported as likely pathogenic for not provided

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
GRCh37/hg19 19q13.42(chr19:54629903-54629992)x1
NC_000019.9:g.(?_54625219)_(54632765_?)dup
NC_000019.9:g.(?_54634718)_(54634863_?)del
NM_015629.4(PRPF31):c.1074-7_1079del rs2516196116
NM_015629.4(PRPF31):c.1126_1129dup (p.Arg377fs) rs2146445865
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1462_1472del (p.Lys488fs) rs2146458114
NM_015629.4(PRPF31):c.177+1G>A rs2516081224
NM_015629.4(PRPF31):c.239-2A>G rs1600334904
NM_015629.4(PRPF31):c.279dup (p.Val94fs) rs1600335148
NM_015629.4(PRPF31):c.421-19_421-1del rs2146418475
NM_015629.4(PRPF31):c.520_528-8del rs2516139169
NM_015629.4(PRPF31):c.528-35_531del
NM_015629.4(PRPF31):c.582_583del (p.Leu195fs) rs1555792879
NM_015629.4(PRPF31):c.682G>C (p.Ala228Pro) rs2146421585
NM_015629.4(PRPF31):c.698-12_702del rs2146424948
NM_015629.4(PRPF31):c.743dup (p.Asn248fs) rs1064797250
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_015629.4(PRPF31):c.912_914dup (p.Val305dup) rs2073927586
NM_015629.4(PRPF31):c.945+1G>A
NM_015629.4(PRPF31):c.946-2A>C rs2073961843
NM_015629.4(PRPF31):c.946-2A>G rs2073961843
NM_015629.4(PRPF31):c.946-8_1069del rs2146443608

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