List of variants in gene PRPF31 reported as pathogenic by Molecular Genetics Laboratory, Institute for Ophthalmic Research

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.1074-2A>G	rs1314226094	0.00003
NM_015629.4(PRPF31):c.1067_1073+8del	rs2073964950
NM_015629.4(PRPF31):c.1118_1127del (p.Lys373fs)	rs2073970897
NM_015629.4(PRPF31):c.1141G>T (p.Gly381Ter)	rs2073971805
NM_015629.4(PRPF31):c.1275G>T (p.Gln425His)	rs1600360827
NM_015629.4(PRPF31):c.176_177insTA (p.Met59fs)	rs2073704298
NM_015629.4(PRPF31):c.178-2A>G	rs2073708638
NM_015629.4(PRPF31):c.279dup (p.Val94fs)	rs1600335148
NM_015629.4(PRPF31):c.371_375del (p.Glu124fs)	rs2073818085
NM_015629.4(PRPF31):c.420G>C (p.Lys140Asn)	rs1555792445
NM_015629.4(PRPF31):c.539C>A (p.Ser180Ter)	rs1411470197
NM_015629.4(PRPF31):c.582_583del (p.Leu195fs)	rs1555792879
NM_015629.4(PRPF31):c.81_84del (p.Glu28fs)	rs2073701678
NM_015629.4(PRPF31):c.953_959del (p.Gly317_Tyr318insTer)	rs2073962058
NM_015629.4(PRPF31):c.954_955dup (p.Glu319fs)	rs2073962186
NM_015629.4(PRPF31):c.96_102del (p.Ile32fs)	rs2073702243

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