ClinVar Miner

List of variants studied for Retinitis pigmentosa 11

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.735C>T (p.Pro245=) rs11556769 0.08507
NM_015629.4(PRPF31):c.1467C>T (p.Val489=) rs62144168 0.08162
NM_015629.4(PRPF31):c.1230A>G (p.Thr410=) rs34154455 0.01460
NM_015629.4(PRPF31):c.420+7G>A rs143717956 0.00723
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln) rs201806410 0.00012
NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile) rs144322132 0.00008
NM_015629.4(PRPF31):c.251T>C (p.Val84Ala) rs369049017 0.00005
NM_015629.4(PRPF31):c.528G>A (p.Gly176=) rs368977441 0.00003
NM_015629.4(PRPF31):c.1268C>T (p.Thr423Met) rs753277924 0.00002
NM_015629.4(PRPF31):c.89C>T (p.Pro30Leu) rs758451671 0.00002
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) rs1411083098 0.00001
NM_015629.4(PRPF31):c.893A>G (p.Lys298Arg) rs763668481 0.00001
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(chr19:54109954-54115802)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.-9+1G>A rs2146380786
NM_015629.4(PRPF31):c.1007C>G (p.Pro336Arg) rs1555794210
NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter) rs1342475527
NM_015629.4(PRPF31):c.1066G>A (p.Gly356Ser)
NM_015629.4(PRPF31):c.1074-1G>C rs1343138103
NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs) rs1600356790
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.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1146+5G>T
NM_015629.4(PRPF31):c.1147-9= rs655240
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015629.4(PRPF31):c.1212_1221del (p.Val407fs) rs2146450161
NM_015629.4(PRPF31):c.1276-2del rs2146450721
NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter) rs1568600184
NM_015629.4(PRPF31):c.1305T>G (p.Tyr435Ter)
NM_015629.4(PRPF31):c.136del (p.Asp46fs) rs2146393019
NM_015629.4(PRPF31):c.1374+569C>G rs2146453060
NM_015629.4(PRPF31):c.1374+654C>G rs587776591
NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter) rs2073703461
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.238+1_238+7del rs2146394271
NM_015629.4(PRPF31):c.239-1G>A rs2073798309
NM_015629.4(PRPF31):c.239-1G>C rs2073798309
NM_015629.4(PRPF31):c.239-1G>T rs2073798309
NM_015629.4(PRPF31):c.267del (p.Glu89fs) rs2146409568
NM_015629.4(PRPF31):c.332_343del (p.His111_Ile114del) rs1600337143
NM_015629.4(PRPF31):c.365dup (p.Pro123_Glu124insTer)
NM_015629.4(PRPF31):c.420+1G>A
NM_015629.4(PRPF31):c.466C>T (p.Gln156Ter) rs2073842959
NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter) rs2146418999
NM_015629.4(PRPF31):c.527+3A>G rs587776590
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_015629.4(PRPF31):c.528-39_531del rs2146420160
NM_015629.4(PRPF31):c.541_551GAG[3]CTCCGAGGAGGAGCT[1] (p.Glu185fs) rs2146420554
NM_015629.4(PRPF31):c.548_580dup (p.Met193_Ala194insGluLeuGluArgLeuGluGluAlaCysAspMet) rs2516142966
NM_015629.4(PRPF31):c.549_550insGCCTCCAG (p.Leu184fs)
NM_015629.4(PRPF31):c.581C>A (p.Ala194Glu) rs119475043
NM_015629.4(PRPF31):c.633del (p.Met212fs) rs2146421305
NM_015629.4(PRPF31):c.646G>C (p.Ala216Pro) rs119475042
NM_015629.4(PRPF31):c.66_79dup (p.Glu27fs) rs2146392668
NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg) rs2073873973
NM_015629.4(PRPF31):c.770dup (p.Thr258fs) rs1600344451
NM_015629.4(PRPF31):c.800_801del (p.Val267fs)
NM_015629.4(PRPF31):c.845_855+1del rs2516158865
NM_015629.4(PRPF31):c.850C>T (p.Pro284Ser)
NM_015629.4(PRPF31):c.855+1G>T rs1057520752
NM_015629.4(PRPF31):c.855+5G>A rs2146426154
NM_015629.4(PRPF31):c.866_879del (p.Arg289fs) rs2146436400
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_015629.4(PRPF31):c.914_931delinsCCAGTGT (p.Val305fs)
NM_015629.4(PRPF31):c.945+2T>G rs2146437002
NM_015629.4(PRPF31):c.946-2A>G rs2073961843
NM_015629.4(PRPF31):c.946-344C>T rs2516187592
NM_015629.4(PRPF31):c.959T>C (p.Leu320Pro)
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) rs1555794205

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