ClinVar Miner

List of variants in gene PRPF31 reported by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) rs869312187
NM_015629.4(PRPF31):c.121C>G (p.Leu41Val) rs878853332
NM_015629.4(PRPF31):c.341T>A (p.Ile114Asn) rs878853330
NM_015629.4(PRPF31):c.400del (p.Asp134fs) rs878853331
NM_015629.4(PRPF31):c.916G>A (p.Asp306Asn) rs878853333
NM_015629.4(PRPF31):c.967G>T (p.Glu323Ter) rs878853335
NM_015629.4(PRPF31):c.994C>T (p.Gln332Ter) rs878853334

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