ClinVar Miner

List of variants reported as pathogenic for Retinitis pigmentosa 11

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Total variants: 30
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 19q13.42(chr19:54618744-54622073)x1
GRCh38/hg38 19q13.42(chr19:54105500-54126715)x1
GRCh38/hg38 19q13.42(chr19:54106667-54131817)x1
GRCh38/hg38 19q13.42(chr19:54114345-54129468)x1
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)
NM_015629.4(PRPF31):c.205del (p.Glu69fs) rs2146394096
NM_015629.4(PRPF31):c.238+1G>A
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)
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
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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