List of variants in gene PRPF31 reported as pathogenic by Sharon lab, Hadassah-Hebrew University Medical Center

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter)	rs1184467860
NM_015629.4(PRPF31):c.689del (p.Lys230fs)	rs1600342032
NM_015629.4(PRPF31):c.697+1G>A	rs1600342050

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