ClinVar Miner

List of variants in gene PRPF8 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.891T>C (p.Asn297=) rs7503397 0.31150
NM_006445.4(PRPF8):c.3774+6G>A rs11078563 0.31089
NM_006445.4(PRPF8):c.1914C>G (p.Leu638=) rs11078565 0.31074
NM_006445.4(PRPF8):c.2847G>A (p.Pro949=) rs33965342 0.29624
NM_006445.4(PRPF8):c.637T>C (p.Leu213=) rs11559305 0.27527
NM_006445.4(PRPF8):c.6588T>C (p.His2196=) rs1802491 0.21248
NM_006445.4(PRPF8):c.3775-14T>C rs3814969 0.17793
NM_006445.4(PRPF8):c.3939G>A (p.Pro1313=) rs35169383 0.02787
NM_006445.4(PRPF8):c.6294G>A (p.Lys2098=) rs11559309 0.02784
NM_006445.4(PRPF8):c.4639-13G>A rs62088058 0.02780
NM_006445.4(PRPF8):c.993-7A>G rs62089988 0.02527
NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=) rs118000367 0.01936
NM_006445.4(PRPF8):c.1290-10A>G rs73291009 0.01904
NM_006445.4(PRPF8):c.2873-13T>C rs57276551 0.01890
NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=) rs34341522 0.01503
NM_006445.4(PRPF8):c.3299+14T>C rs16951071 0.01464
NM_006445.4(PRPF8):c.2631G>A (p.Ala877=) rs35420265 0.01452
NM_006445.4(PRPF8):c.1855-13C>T rs16951135 0.01407
NM_006445.4(PRPF8):c.2409G>A (p.Ala803=) rs114284408 0.01227
NM_006445.4(PRPF8):c.3061-11T>G rs11652160 0.01070
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788 0.00488
NM_006445.4(PRPF8):c.101-3C>T rs75670228 0.00453
NM_006445.4(PRPF8):c.4707G>A (p.Leu1569=) rs143237388 0.00343
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_006445.4(PRPF8):c.435-6T>G rs75026252 0.00262
NM_006445.4(PRPF8):c.3447-12C>T rs148435449 0.00138
NM_006445.4(PRPF8):c.1289+13C>T rs199729224 0.00135
NM_006445.4(PRPF8):c.5466C>T (p.Ile1822=) rs192097342 0.00127
NM_006445.4(PRPF8):c.*125G>A rs151045703 0.00110
NM_006445.4(PRPF8):c.6227+8C>T rs369076508 0.00099
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) rs141456140 0.00096
NM_006445.4(PRPF8):c.6834G>A (p.Ser2278=) rs147050234 0.00076
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) rs369391284 0.00049
NM_006445.4(PRPF8):c.2298T>C (p.Thr766=) rs141736972 0.00041
NM_006445.4(PRPF8):c.1720-7A>G rs200224854 0.00039
NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=) rs75163090 0.00035
NM_006445.4(PRPF8):c.2601C>T (p.Ile867=) rs117892584 0.00034
NM_006445.4(PRPF8):c.5412C>T (p.Asn1804=) rs151214963 0.00034
NM_006445.4(PRPF8):c.4464A>T (p.Thr1488=) rs11559308 0.00033
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=) rs147958141 0.00027
NM_006445.4(PRPF8):c.5841C>T (p.Asn1947=) rs142499204 0.00027
NM_006445.4(PRPF8):c.4022+15A>G rs370376159 0.00025
NM_006445.4(PRPF8):c.1253C>G (p.Thr418Ser) rs142411659 0.00024
NM_006445.4(PRPF8):c.1869G>C (p.Lys623Asn) rs200389505 0.00024
NM_006445.4(PRPF8):c.3657+13C>T rs141542320 0.00019
NM_006445.4(PRPF8):c.-68C>T rs761491187 0.00017
NM_006445.4(PRPF8):c.5538C>T (p.Ala1846=) rs372925838 0.00016
NM_006445.4(PRPF8):c.6657G>A (p.Thr2219=) rs200741294 0.00016
NM_006445.4(PRPF8):c.5794-11T>C rs187602609 0.00015
NM_006445.4(PRPF8):c.5022C>T (p.His1674=) rs185936129 0.00010
NM_006445.4(PRPF8):c.1409+13A>G rs763003164 0.00009
NM_006445.4(PRPF8):c.283A>G (p.Met95Val) rs373157040 0.00009
NM_006445.4(PRPF8):c.3975C>T (p.Leu1325=) rs375341985 0.00009
NM_006445.4(PRPF8):c.4202+19A>G rs1279339161 0.00009
NM_006445.4(PRPF8):c.*11G>T rs767915818 0.00006
NM_006445.4(PRPF8):c.5794-3C>G rs776617795 0.00006
NM_006445.4(PRPF8):c.6511-3T>C rs199665387 0.00006
NM_006445.4(PRPF8):c.690C>T (p.Phe230=) rs200640834 0.00006
NM_006445.4(PRPF8):c.6447G>A (p.Pro2149=) rs140315637 0.00005
NM_006445.4(PRPF8):c.6504C>T (p.Tyr2168=) rs753995574 0.00005
NM_006445.4(PRPF8):c.1116G>A (p.Pro372=) rs376645217 0.00004
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=) rs770535800 0.00004
NM_006445.4(PRPF8):c.3729C>T (p.Arg1243=) rs370510856 0.00004
NM_006445.4(PRPF8):c.4792G>A (p.Asp1598Asn) rs759664867 0.00004
NM_006445.4(PRPF8):c.4947-5C>T rs190909610 0.00004
NM_006445.4(PRPF8):c.6108A>G (p.Gln2036=) rs373131838 0.00004
NM_006445.4(PRPF8):c.*167A>G rs753906300 0.00003
NM_006445.4(PRPF8):c.2790C>T (p.Ala930=) rs779910932 0.00003
NM_006445.4(PRPF8):c.385G>A (p.Val129Ile) rs548682365 0.00003
NM_006445.4(PRPF8):c.654-5C>T rs143954665 0.00003
NM_006445.4(PRPF8):c.6645A>G (p.Thr2215=) rs143748924 0.00003
NM_006445.4(PRPF8):c.72C>T (p.Tyr24=) rs557206853 0.00003
NM_006445.4(PRPF8):c.*36C>G rs776962939 0.00002
NM_006445.4(PRPF8):c.-24G>A rs886052619 0.00002
NM_006445.4(PRPF8):c.1142C>T (p.Pro381Leu) rs745441870 0.00002
NM_006445.4(PRPF8):c.1311C>T (p.Ala437=) rs747870802 0.00002
NM_006445.4(PRPF8):c.3009C>T (p.His1003=) rs149785500 0.00002
NM_006445.4(PRPF8):c.3280C>T (p.Arg1094Cys) rs1029078582 0.00002
NM_006445.4(PRPF8):c.3456G>A (p.Ala1152=) rs766093345 0.00002
NM_006445.4(PRPF8):c.6078C>T (p.Ile2026=) rs374672916 0.00002
NM_006445.4(PRPF8):c.6896C>T (p.Ala2299Val) rs747942696 0.00002
NM_006445.4(PRPF8):c.*72C>A rs758889910 0.00001
NM_006445.4(PRPF8):c.-30T>C rs886052620 0.00001
NM_006445.4(PRPF8):c.-62G>T rs886052622 0.00001
NM_006445.4(PRPF8):c.-74C>T rs886052623 0.00001
NM_006445.4(PRPF8):c.1099-8T>C rs200865270 0.00001
NM_006445.4(PRPF8):c.1263C>T (p.Ala421=) rs886052615 0.00001
NM_006445.4(PRPF8):c.1401A>G (p.Gln467=) rs751438136 0.00001
NM_006445.4(PRPF8):c.1719+4A>G rs774567975 0.00001
NM_006445.4(PRPF8):c.2382C>T (p.Tyr794=) rs368348291 0.00001
NM_006445.4(PRPF8):c.3305C>A (p.Thr1102Lys) rs776540872 0.00001
NM_006445.4(PRPF8):c.3335G>A (p.Arg1112His) rs780480249 0.00001
NM_006445.4(PRPF8):c.360C>T (p.Tyr120=) rs764798990 0.00001
NM_006445.4(PRPF8):c.3699C>T (p.Asp1233=) rs753683243 0.00001
NM_006445.4(PRPF8):c.4131C>T (p.Ser1377=) rs761899545 0.00001
NM_006445.4(PRPF8):c.5862G>A (p.Leu1954=) rs200558108 0.00001
NM_006445.4(PRPF8):c.6051G>A (p.Ser2017=) rs560560988 0.00001
NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=) rs761118301 0.00001
NM_006445.4(PRPF8):c.6584C>G (p.Thr2195Ser) rs377037603 0.00001
NM_006445.4(PRPF8):c.6650+5G>A rs1246430524 0.00001
NM_006445.4(PRPF8):c.6801C>T (p.Phe2267=) rs755962697 0.00001
NM_006445.4(PRPF8):c.6967G>T (p.Gly2323Trp) rs1910997588 0.00001
NM_006445.4(PRPF8):c.*2C>T rs147941247
NM_006445.4(PRPF8):c.*36C>T rs776962939
NM_006445.4(PRPF8):c.*72C>G rs758889910
NM_006445.4(PRPF8):c.-15T>A rs886052618
NM_006445.4(PRPF8):c.-22G>C rs185356676
NM_006445.4(PRPF8):c.-34C>T rs886052621
NM_006445.4(PRPF8):c.-43G>A rs575056329
NM_006445.4(PRPF8):c.-43G>C rs575056329
NM_006445.4(PRPF8):c.-4G>T rs886052617
NM_006445.4(PRPF8):c.-76A>G rs765014520
NM_006445.4(PRPF8):c.-79C>T rs74635192
NM_006445.4(PRPF8):c.101-8C>T rs369806898
NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu) rs774010147
NM_006445.4(PRPF8):c.1137G>A (p.Glu379=)
NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val) rs1912802818
NM_006445.4(PRPF8):c.1223C>T (p.Pro408Leu)
NM_006445.4(PRPF8):c.1335C>G (p.Val445=) rs1912780033
NM_006445.4(PRPF8):c.1435A>T (p.Thr479Ser) rs1912768305
NM_006445.4(PRPF8):c.1653G>A (p.Leu551=) rs1912753368
NM_006445.4(PRPF8):c.1684G>A (p.Val562Met) rs777124467
NM_006445.4(PRPF8):c.1755T>C (p.Val585=)
NM_006445.4(PRPF8):c.1800A>G (p.Arg600=)
NM_006445.4(PRPF8):c.181A>G (p.Met61Val)
NM_006445.4(PRPF8):c.183G>A (p.Met61Ile)
NM_006445.4(PRPF8):c.1985-6dup rs1176602293
NM_006445.4(PRPF8):c.2140A>G (p.Ser714Gly)
NM_006445.4(PRPF8):c.2181+5G>A rs747396457
NM_006445.4(PRPF8):c.2181+5dup
NM_006445.4(PRPF8):c.2199G>A (p.Thr733=) rs777885967
NM_006445.4(PRPF8):c.239del (p.Lys80fs) rs1913055670
NM_006445.4(PRPF8):c.2435C>A (p.Thr812Asn)
NM_006445.4(PRPF8):c.2680-9G>A rs886052614
NM_006445.4(PRPF8):c.2739C>T (p.Pro913=)
NM_006445.4(PRPF8):c.2894T>G (p.Val965Gly)
NM_006445.4(PRPF8):c.3039C>T (p.Asn1013=)
NM_006445.4(PRPF8):c.3060+6T>C
NM_006445.4(PRPF8):c.3061-9T>C rs1912518161
NM_006445.4(PRPF8):c.3081A>C (p.Ser1027=) rs201573889
NM_006445.4(PRPF8):c.3081A>T (p.Ser1027=) rs201573889
NM_006445.4(PRPF8):c.3154G>T (p.Val1052Leu) rs886052613
NM_006445.4(PRPF8):c.3166C>T (p.His1056Tyr)
NM_006445.4(PRPF8):c.3198G>A (p.Gln1066=)
NM_006445.4(PRPF8):c.3252C>G (p.Pro1084=) rs746764862
NM_006445.4(PRPF8):c.3368A>G (p.Glu1123Gly) rs1912457869
NM_006445.4(PRPF8):c.3391AAG[1] (p.Lys1132del) rs1176869304
NM_006445.4(PRPF8):c.3513G>C (p.Glu1171Asp)
NM_006445.4(PRPF8):c.3523G>C (p.Val1175Leu)
NM_006445.4(PRPF8):c.3613G>A (p.Glu1205Lys)
NM_006445.4(PRPF8):c.3657+9T>C rs886052612
NM_006445.4(PRPF8):c.3666G>A (p.Lys1222=) rs549397527
NM_006445.4(PRPF8):c.3675A>G (p.Thr1225=)
NM_006445.4(PRPF8):c.3884T>C (p.Ile1295Thr)
NM_006445.4(PRPF8):c.3910_3914del (p.Asn1304fs) rs878853387
NM_006445.4(PRPF8):c.4028C>G (p.Ser1343Cys)
NM_006445.4(PRPF8):c.4167C>T (p.Tyr1389=)
NM_006445.4(PRPF8):c.4311T>C (p.Arg1437=)
NM_006445.4(PRPF8):c.4338+2T>C
NM_006445.4(PRPF8):c.4339-7C>T rs1911661181
NM_006445.4(PRPF8):c.434+18A>C rs72820383
NM_006445.4(PRPF8):c.4367C>T (p.Thr1456Ile)
NM_006445.4(PRPF8):c.4380T>C (p.His1460=)
NM_006445.4(PRPF8):c.4477A>G (p.Thr1493Ala) rs1479391155
NM_006445.4(PRPF8):c.4635C>T (p.Ala1545=)
NM_006445.4(PRPF8):c.4638T>C (p.Asn1546=)
NM_006445.4(PRPF8):c.4680C>T (p.Ile1560=) rs1911629033
NM_006445.4(PRPF8):c.5052C>T (p.Phe1684=)
NM_006445.4(PRPF8):c.5061C>T (p.Tyr1687=)
NM_006445.4(PRPF8):c.5110G>A (p.Ala1704Thr)
NM_006445.4(PRPF8):c.5243G>A (p.Arg1748His)
NM_006445.4(PRPF8):c.534T>C (p.Tyr178=) rs886052616
NM_006445.4(PRPF8):c.5377-1G>T rs1911505318
NM_006445.4(PRPF8):c.5377-6_5377-4del
NM_006445.4(PRPF8):c.5619+2T>C rs1911406583
NM_006445.4(PRPF8):c.5792C>T (p.Thr1931Met) rs1911391944
NM_006445.4(PRPF8):c.57C>G (p.Ala19=) rs943865335
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.5804G>T (p.Arg1935Leu)
NM_006445.4(PRPF8):c.5951A>G (p.Lys1984Arg) rs1911312551
NM_006445.4(PRPF8):c.5986_5987+2del
NM_006445.4(PRPF8):c.603C>T (p.Ala201=) rs148215037
NM_006445.4(PRPF8):c.6062A>T (p.Gln2021Leu)
NM_006445.4(PRPF8):c.6220A>C (p.Arg2074=)
NM_006445.4(PRPF8):c.625G>A (p.Asp209Asn)
NM_006445.4(PRPF8):c.6352T>C (p.Ser2118Pro)
NM_006445.4(PRPF8):c.6353C>T (p.Ser2118Phe) rs387906971
NM_006445.4(PRPF8):c.6377G>A (p.Gly2126Glu) rs1360391558
NM_006445.4(PRPF8):c.6414G>C (p.Gln2138His) rs1911084608
NM_006445.4(PRPF8):c.6446_6447insCAC (p.Pro2149_Gln2150insThr) rs1911082583
NM_006445.4(PRPF8):c.6446_6462delinsACCACCACACCATG (p.Pro2149_His2154delinsHisHisHisThrMet)
NM_006445.4(PRPF8):c.6449A>G (p.Gln2150Arg) rs1911081749
NM_006445.4(PRPF8):c.6466A>C (p.Thr2156Pro) rs2151109770
NM_006445.4(PRPF8):c.6468C>G (p.Thr2156=)
NM_006445.4(PRPF8):c.6470T>A (p.Val2157Glu) rs878853388
NM_006445.4(PRPF8):c.6480_6491del (p.Gly2161_Pro2164del) rs1597224402
NM_006445.4(PRPF8):c.6565T>C (p.Ser2189Pro) rs929492529
NM_006445.4(PRPF8):c.6582C>T (p.Thr2194=)
NM_006445.4(PRPF8):c.6651-3C>A rs1467838102
NM_006445.4(PRPF8):c.6778C>T (p.Gln2260Ter)
NM_006445.4(PRPF8):c.6783G>A (p.Met2261Ile) rs886052611
NM_006445.4(PRPF8):c.6821C>T (p.Pro2274Leu) rs1597223721
NM_006445.4(PRPF8):c.6837G>T (p.Trp2279Cys) rs2151109229
NM_006445.4(PRPF8):c.6838A>G (p.Asn2280Asp) rs1911029601
NM_006445.4(PRPF8):c.6854-14C>A rs573493017
NM_006445.4(PRPF8):c.6854-4G>A rs75996323
NM_006445.4(PRPF8):c.68A>T (p.Asp23Val)
NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr) rs121434239
NM_006445.4(PRPF8):c.6901C>T (p.Pro2301Ser) rs121434239
NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu) rs2151109012
NM_006445.4(PRPF8):c.6910T>G (p.Phe2304Val) rs1911004419
NM_006445.4(PRPF8):c.6911T>G (p.Phe2304Cys)
NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu) rs121434240
NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp) rs2151108985
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) rs121434236
NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg) rs121434236
NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu) rs121434236
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys) rs121434238
NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser) rs1911001854
NM_006445.4(PRPF8):c.6938A>C (p.His2313Pro)
NM_006445.4(PRPF8):c.6938A>G (p.His2313Arg) rs1555550045
NM_006445.4(PRPF8):c.6942C>A (p.Phe2314Leu)
NM_006445.4(PRPF8):c.6961C>T (p.Gln2321Ter)
NM_006445.4(PRPF8):c.6966G>T (p.Glu2322Asp) rs766407266
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006445.4(PRPF8):c.6978C>G (p.Tyr2326Ter) rs773363890
NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys) rs1597223220
NM_006445.4(PRPF8):c.6994G>C (p.Asp2332His)
NM_006445.4(PRPF8):c.6994dup (p.Asp2332fs) rs1597223214
NM_006445.4(PRPF8):c.6996C>A (p.Asp2332Glu) rs1162009923
NM_006445.4(PRPF8):c.7000T>A (p.Tyr2334Asn) rs1193604660
NM_006445.4(PRPF8):c.7002T>G (p.Tyr2334Ter) rs757906173
NM_006445.4(PRPF8):c.703A>G (p.Met235Val)
NM_006445.4(PRPF8):c.716A>G (p.Tyr239Cys)
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser) rs756656471
NM_006445.4(PRPF8):c.851G>A (p.Arg284Gln) rs1912920951
NM_006445.4(PRPF8):c.867-14A>C rs1912894972
NM_006445.4(PRPF8):c.882T>C (p.Asn294=)
NM_006445.4(PRPF8):c.914G>T (p.Arg305Leu)
NM_006445.4(PRPF8):c.926G>A (p.Arg309His) rs775023296
NM_006445.4(PRPF8):c.957G>T (p.Leu319Phe)
NM_006445.4(PRPF8):c.965A>G (p.Asn322Ser)
NM_006445.4(PRPF8):c.971C>T (p.Pro324Leu)

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