List of variants in gene PRPF31 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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.1129del (p.Arg377fs)	rs1555794302
NM_015629.4(PRPF31):c.1147-153_1196del	rs1555794509
NM_015629.4(PRPF31):c.1A>T (p.Met1Leu)	rs1555791188
NM_015629.4(PRPF31):c.359del (p.Lys120fs)	rs1555792415
NM_015629.4(PRPF31):c.838_841dup (p.Gln281fs)	rs1555793207
Single allele

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