ClinVar Miner

List of variants in gene PRPF31 reported by 3billion

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.1146+5G>T
NM_015629.4(PRPF31):c.238+1G>A rs779270349
NM_015629.4(PRPF31):c.365dup (p.Pro123_Glu124insTer)
NM_015629.4(PRPF31):c.466C>T (p.Gln156Ter) rs2073842959
NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg) rs2073873973
NM_015629.4(PRPF31):c.800_801del (p.Val267fs)
NM_015629.4(PRPF31):c.855+1G>T rs1057520752
NM_015629.4(PRPF31):c.866_879del (p.Arg289fs) rs2146436400
NM_015629.4(PRPF31):c.914_931delinsCCAGTGT (p.Val305fs)
NM_015629.4(PRPF31):c.959T>C (p.Leu320Pro)

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