List of variants in gene PRPF31 reported as pathogenic for Retinitis pigmentosa 11

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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: 26

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 19q13.42(chr19:54121739-54129468)x1
GRCh38/hg38 19q13.42(chr19:54121739-54131817)x1
NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter)	rs1342475527
NM_015629.4(PRPF31):c.1115_1125del (p.Arg372fs)	rs587776589
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter)	rs869312187
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter)	rs2146449862
NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter)	rs1568600184
NM_015629.4(PRPF31):c.1374+654C>G	rs587776591
NM_015629.4(PRPF31):c.176del (p.Met59fs)	rs2146393245
NM_015629.4(PRPF31):c.1A>G (p.Met1Val)	rs1555791188
NM_015629.4(PRPF31):c.205del (p.Glu69fs)	rs2146394096
NM_015629.4(PRPF31):c.238+1G>A	rs779270349
NM_015629.4(PRPF31):c.332_343del (p.His111_Ile114del)	rs1600337143
NM_015629.4(PRPF31):c.420+1G>A
NM_015629.4(PRPF31):c.466C>T (p.Gln156Ter)	rs2073842959
NM_015629.4(PRPF31):c.527+3A>G	rs587776590
NM_015629.4(PRPF31):c.528-39_531del	rs2146420160
NM_015629.4(PRPF31):c.548_580dup (p.Met193_Ala194insGluLeuGluArgLeuGluGluAlaCysAspMet)	rs2516142966
NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu)	rs119475043
NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro)	rs119475042
NM_015629.4(PRPF31):c.770dup (p.Thr258fs)	rs1600344451
NM_015629.4(PRPF31):c.845_855+1del	rs2516158865
NM_015629.4(PRPF31):c.855+1G>T	rs1057520752
NM_015629.4(PRPF31):c.866_879del (p.Arg289fs)	rs2146436400
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs)	rs1555793828
NM_015629.4(PRPF31):c.946-2A>G	rs2073961843

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