List of variants in gene PRPF31 reported as likely pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.1146+5G>T
NM_015629.4(PRPF31):c.1146G>C (p.Glu382Asp)
NM_015629.4(PRPF31):c.1200del (p.Lys401fs)
NM_015629.4(PRPF31):c.1299_1300del (p.Val434fs)
NM_015629.4(PRPF31):c.421-58_434del
NM_015629.4(PRPF31):c.528-41_528-9del
NM_015629.4(PRPF31):c.646G>A (p.Ala216Thr)
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg)	rs2073926924
NM_015629.4(PRPF31):c.908C>A (p.Ala303Asp)

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