List of variants in gene PRPF31 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter)	rs2146449862
NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter)	rs2073709795
NM_015629.4(PRPF31):c.358_359del (p.Lys120fs)	rs1555792415
NM_015629.4(PRPF31):c.395del (p.Ala132fs)	rs2073818439
NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs)	rs2516145103
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs)	rs1555793828

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