List of variants in gene PRPF31 reported as likely pathogenic by Dept Of Ophthalmology, Nagoya University

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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.837C>T (p.Ile279=)	rs1374316824	0.00001
NM_015629.4(PRPF31):c.1033dup (p.Ala345fs)	rs2516193520
NM_015629.4(PRPF31):c.1154_1155insAG (p.Asp386fs)	rs2516205158
NM_015629.4(PRPF31):c.118C>T (p.Gln40Ter)	rs2516079854
NM_015629.4(PRPF31):c.1231_1232del (p.Gln411fs)	rs2516206308
NM_015629.4(PRPF31):c.265G>T (p.Glu89Ter)	rs2516116469
NM_015629.4(PRPF31):c.304G>T (p.Glu102Ter)	rs2516117325
NM_015629.4(PRPF31):c.310G>T (p.Glu104Ter)	rs2073800655
NM_015629.4(PRPF31):c.323-1G>C	rs2146413215

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