ClinVar Miner

List of variants studied for Retinitis Pigmentosa, Dominant by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_014336.5(AIPL1):c.651A>G (p.Pro217=) rs2292546 0.73525
NM_014748.4(SNX17):c.*653G>A rs13472 0.37643
NM_014336.5(AIPL1):c.*1229C>T rs907938 0.28038
NM_014336.5(AIPL1):c.268G>C (p.Asp90His) rs12449580 0.19586
NM_014336.5(AIPL1):c.*1009A>G rs4577135 0.19087
NM_002098.6(GUCA1B):c.*1318G>A rs1997980 0.19007
NM_014336.4(AIPL1):c.-106C>A rs7211442 0.10081
NM_002098.6(GUCA1B):c.*457A>G rs9471797 0.08647
NM_000554.5(CRX):c.-116T>C rs10418215 0.08435
NM_002098.6(GUCA1B):c.*220A>G rs3749920 0.07278
NM_002098.6(GUCA1B):c.*503G>A rs13211352 0.05737
NM_006269.1(RP1):c.-154T>C rs74632105 0.04591
NM_013342.4(TFPT):c.-194G>A rs75629461 0.02868
NM_002098.6(GUCA1B):c.*480G>A rs113734032 0.02758
NM_001384910.1(GUCA1A):c.*479C>T rs6899575 0.02610
NM_002098.6(GUCA1B):c.*429G>A rs114573886 0.02273
NM_002098.6(GUCA1B):c.*488C>T rs7764586 0.02085
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_002098.6(GUCA1B):c.*295G>A rs73733110 0.01608
NM_002098.6(GUCA1B):c.*433A>G rs140024841 0.01581
NM_002098.6(GUCA1B):c.*477C>T rs143063040 0.01574
NM_002098.6(GUCA1B):c.*1088G>C rs76451756 0.01569
NM_002098.6(GUCA1B):c.*1126A>G rs115180990 0.01569
NM_002098.6(GUCA1B):c.*1203T>C rs75437254 0.01565
NM_002098.6(GUCA1B):c.*928A>G rs114824449 0.01564
NM_002098.6(GUCA1B):c.*666G>T rs140229339 0.01415
NM_001384910.1(GUCA1A):c.567C>T (p.Asp189=) rs34925828 0.01271
NM_012469.3(PRPF6):c.-119G>A rs115265032 0.01259
NM_013342.4(TFPT):c.-127G>A rs117225554 0.01242
NM_002098.6(GUCA1B):c.*618G>A rs150308756 0.01146
NM_001384910.1(GUCA1A):c.*76C>A rs76792280 0.01120
NM_014336.5(AIPL1):c.*134G>T rs2090068 0.01001
NR_148338.1(LOC107986845):n.884G>A rs183121204 0.00938
NM_014336.5(AIPL1):c.*1178C>T rs149460055 0.00841
NM_000327.4(ROM1):c.868del (p.Gln290fs) rs548233813 0.00807
NM_014336.5(AIPL1):c.*1237C>T rs139074266 0.00803
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417 0.00773
NM_014336.5(AIPL1):c.*188G>A rs1317185 0.00763
NM_014336.5(AIPL1):c.642+14G>A rs188779461 0.00682
NM_002098.6(GUCA1B):c.*581G>A rs138314395 0.00660
NM_001384910.1(GUCA1A):c.*345G>A rs115636833 0.00658
NM_014336.5(AIPL1):c.765T>C (p.Asp255=) rs62637018 0.00643
NM_144631.6(ZNF513):c.1260C>T (p.Leu420=) rs112828880 0.00620
NM_001384910.1(GUCA1A):c.*331A>G rs45553838 0.00510
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_013342.4(TFPT):c.-350G>T rs45619231 0.00456
NM_001384910.1(GUCA1A):c.*415C>T rs182201426 0.00439
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_004698.3(PRPF3):c.-133A>G rs3767630 0.00352
NM_014336.5(AIPL1):c.*390G>T rs182504714 0.00334
NM_014336.5(AIPL1):c.*221G>A rs112307858 0.00302
NM_014014.5(SNRNP200):c.*497_*498dup rs148352926 0.00265
NM_014336.5(AIPL1):c.*53C>T rs151279098 0.00200
NM_014336.5(AIPL1):c.*1007C>T rs111456528 0.00192
NM_001387564.1(SMIM27):c.45+129C>T rs187268836 0.00185
NM_012469.3(PRPF6):c.-147A>C rs553841583 0.00172
NM_144631.6(ZNF513):c.-91C>T rs530824832 0.00169
NM_014336.5(AIPL1):c.-17C>A rs188246267 0.00132
NM_014336.5(AIPL1):c.*33A>C rs140472462 0.00126
NM_144631.6(ZNF513):c.749G>A (p.Arg250Gln) rs141337532 0.00115
NM_014336.4(AIPL1):c.-107C>G rs149098937 0.00093
NM_014336.5(AIPL1):c.780C>T (p.His260=) rs145304845 0.00072
NM_013342.4(TFPT):c.-330C>T rs587674748 0.00071
NM_014336.5(AIPL1):c.*824G>C rs145706166 0.00065
NM_014336.5(AIPL1):c.97-15C>T rs190887679 0.00051
NM_014748.4(SNX17):c.*697C>T rs560324766 0.00051
NM_001384910.1(GUCA1A):c.*10C>A rs367804008 0.00048
NM_014336.4(AIPL1):c.-52G>T rs377376064 0.00048
NM_014336.5(AIPL1):c.*150A>C rs886053266 0.00046
NM_014748.4(SNX17):c.*692T>C rs754539683 0.00028
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser) rs142411659 0.00024
NM_144631.6(ZNF513):c.1568G>A (p.Arg523Gln) rs371030335 0.00024
NM_014336.5(AIPL1):c.*748C>T rs543789961 0.00023
NM_000327.3(ROM1):c.-159delA rs879752924 0.00021
NM_014336.5(AIPL1):c.737A>C (p.Tyr246Ser) rs138585919 0.00021
NM_144631.6(ZNF513):c.-24C>A rs780603445 0.00019
NM_014336.5(AIPL1):c.1108C>T (p.Pro370Ser) rs139079107 0.00017
NM_144631.6(ZNF513):c.950G>A (p.Arg317Gln) rs201047611 0.00016
NM_014336.5(AIPL1):c.*1534G>A rs780946014 0.00014
NM_014336.5(AIPL1):c.*153del rs886053264 0.00013
NM_144631.6(ZNF513):c.-48G>C rs563171952 0.00012
NM_015629.4(PRPF31):c.*224_*228dup rs587763567 0.00011
NM_014336.5(AIPL1):c.*23C>G rs369568105 0.00010
NM_014014.4(SNRNP200):c.-114T>C rs368747373 0.00008
NM_014336.4(AIPL1):c.-73A>G rs751249166 0.00008
NM_014336.5(AIPL1):c.*280G>A rs886053261 0.00007
NM_144631.6(ZNF513):c.-51C>T rs770982327 0.00007
NM_144631.6(ZNF513):c.619C>T (p.Arg207Cys) rs140620118 0.00007
NM_000717.4(CA4):c.-76G>C rs543743714 0.00006
NM_014336.5(AIPL1):c.616A>G (p.Ile206Val) rs772911646 0.00005
NM_144631.6(ZNF513):c.1015T>C (p.Cys339Arg) rs267607182 0.00005
NM_144631.6(ZNF513):c.740G>A (p.Arg247Gln) rs139008988 0.00004
NM_004698.3(PRPF3):c.-139G>A rs868986702 0.00003
NM_014336.5(AIPL1):c.785-11G>A rs199772097 0.00003
NM_001387564.1(SMIM27):c.45+148A>G rs886063856 0.00002
NM_014336.4(AIPL1):c.-21A>G rs373772674 0.00002
NM_000322.4(PRPH2):c.-282G>A rs886061408 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000717.5(CA4):c.449C>T (p.Ser150Leu) rs867271887 0.00001
NM_002098.6(GUCA1B):c.*219_*220del rs779998898 0.00001
NM_014336.5(AIPL1):c.359C>T (p.Thr120Met) rs144579083 0.00001
NM_014336.5(AIPL1):c.639C>T (p.Thr213=) rs371485219 0.00001
NM_144631.6(ZNF513):c.-125G>T rs886055909 0.00001
NM_144631.6(ZNF513):c.322C>A (p.Pro108Thr) rs374110410 0.00001
NM_000322.5(PRPH2):c.*468_*469del rs886061401
NM_000322.5(PRPH2):c.*483_*484dup rs55851577
NM_000322.5(PRPH2):c.*484del rs55851577
NM_000327.3(ROM1):c.-478delG rs886048436
NM_000554.6(CRX):c.*1621_*1623dup rs59559801
NM_000554.6(CRX):c.*1654dup rs138321430
NM_000554.6(CRX):c.*1900del rs796977583
NM_000554.6(CRX):c.*308AAG[2] rs398059782
NM_000554.6(CRX):c.*435del rs886054551
NM_000554.6(CRX):c.*754_*756dup rs60558029
NM_000554.6(CRX):c.*756dup rs60558029
NM_001031710.3(KLHL7):c.443-10_443-9del rs774048435
NM_001354768.3(NRL):c.*283del rs200281199
NM_004698.3(PRPF3):c.-118T>C rs886045259
NM_004698.3(PRPF3):c.-149_-147CGG[4] rs886045257
NM_004698.4(PRPF3):c.*145_*151del rs886045264
NM_005802.5(TOPORS):c.*139del rs140010425
NM_005802.5(TOPORS):c.*139dup rs140010425
NM_005802.5(TOPORS):c.*362del rs34721491
NM_005802.5(TOPORS):c.*647dup rs886063850
NM_005802.5(TOPORS):c.*733_*737del rs201977387
NM_005802.5(TOPORS):c.264A>G (p.Lys88=) rs886063855
NM_006269.2(RP1):c.*179_*181del rs140712625
NM_006269.2(RP1):c.*260_*261dup rs10654889
NM_006269.2(RP1):c.*261dup rs10654889
NM_006445.4(PRPF8):c.2182-6dup rs779420760
NM_006445.4(PRPF8):c.645C>T (p.Asp215=) rs758699232
NM_012469.4(PRPF6):c.1770-11_1770-10del rs886056962
NM_014336.5(AIPL1):c.*1289G>A rs11869118
NM_014336.5(AIPL1):c.*1398G>A rs886053259
NM_014336.5(AIPL1):c.*150_*151insCAA rs200523461
NM_014336.5(AIPL1):c.*151_*152del rs77115868
NM_014336.5(AIPL1):c.*151_*152dup rs77115868
NM_014336.5(AIPL1):c.*1537C>A rs886053255
NM_014336.5(AIPL1):c.*153_*154del rs886053263
NM_014336.5(AIPL1):c.*153_*155del rs886053262
NM_014336.5(AIPL1):c.*1550A>C rs181055698
NM_014336.5(AIPL1):c.*1568G>A rs11869066
NM_014336.5(AIPL1):c.*730dup rs559951043
NM_014336.5(AIPL1):c.*887CAAAA[2] rs375369909
NM_014748.4(SNX17):c.*554_*558del rs886055906
NM_015629.3(PRPF31):c.-113G>C rs17526361
NM_015629.3(PRPF31):c.-127G>A rs587601857
NM_144631.5(ZNF513):c.-213G>A rs886055911
NM_144631.6(ZNF513):c.-103G>A rs552236644
NM_144631.6(ZNF513):c.-203dup rs886055910
NM_144631.6(ZNF513):c.536_537insGC (p.Cys180fs) rs1558312832
NM_144631.6(ZNF513):c.556G>A (p.Ala186Thr) rs886055908
NM_144631.6(ZNF513):c.605G>T (p.Gly202Val) rs886055907
NM_174878.3(CLRN1):c.*265AT[5] rs550716419
NM_174878.3(CLRN1):c.*277GT[11] rs34027634
NM_174878.3(CLRN1):c.*277GT[12] rs34027634
NM_174878.3(CLRN1):c.*277GT[13] rs34027634
NM_174878.3(CLRN1):c.*277GT[15] rs34027634
NM_174878.3(CLRN1):c.*277GT[16] rs34027634

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