List of variants in gene PRPF31 reported as likely pathogenic by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)	rs868538598
NM_015629.4(PRPF31):c.1095del (p.Leu366fs)	rs2146445593
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter)	rs2146449862
NM_015629.4(PRPF31):c.535delinsGG (p.Leu179fs)	rs2146420485
NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs)	rs2073701307
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)	rs2073926924
NM_015629.4(PRPF31):c.950del (p.Gly317fs)	rs886041773

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