ClinVar Miner

List of variants in gene PRPF8 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 535
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HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.306C>T (p.Leu102=) rs113874709 0.00104
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) rs141456140 0.00096
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) rs369391284 0.00049
NM_006445.4(PRPF8):c.1720-7A>G rs200224854 0.00039
NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=) rs144851263 0.00039
NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=) rs75163090 0.00035
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.5138+5G>C rs377003550 0.00024
NM_006445.4(PRPF8):c.389A>G (p.Asn130Ser) rs201671566 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.37C>G (p.Pro13Ala) rs371898516 0.00013
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=) rs727504109 0.00011
NM_006445.4(PRPF8):c.3657+4C>T rs200104174 0.00011
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.*11G>T rs767915818 0.00006
NM_006445.4(PRPF8):c.5164A>G (p.Ser1722Gly) rs201280111 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.434+3G>A rs372997528 0.00005
NM_006445.4(PRPF8):c.6447G>A (p.Pro2149=) rs140315637 0.00005
NM_006445.4(PRPF8):c.103C>A (p.Arg35=) rs144810783 0.00004
NM_006445.4(PRPF8):c.2182-3T>C rs368609533 0.00004
NM_006445.4(PRPF8):c.271G>T (p.Ala91Ser) rs760143576 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.439A>G (p.Met147Val) rs777421010 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.6750C>T (p.Gly2250=) rs759598868 0.00004
NM_006445.4(PRPF8):c.74T>C (p.Met25Thr) rs537516822 0.00004
NM_006445.4(PRPF8):c.*167A>G rs753906300 0.00003
NM_006445.4(PRPF8):c.1240C>T (p.Arg414Cys) rs368865707 0.00003
NM_006445.4(PRPF8):c.1420C>T (p.Arg474Cys) rs755296299 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.5376+6_5376+9del rs773108151 0.00003
NM_006445.4(PRPF8):c.56C>T (p.Ala19Val) rs763069309 0.00003
NM_006445.4(PRPF8):c.623A>G (p.Tyr208Cys) rs1335593452 0.00003
NM_006445.4(PRPF8):c.654-5C>T rs143954665 0.00003
NM_006445.4(PRPF8):c.890A>G (p.Asn297Ser) rs765145210 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.1075A>G (p.Ile359Val) rs762565821 0.00002
NM_006445.4(PRPF8):c.1142C>T (p.Pro381Leu) rs745441870 0.00002
NM_006445.4(PRPF8):c.1235A>G (p.Asn412Ser) rs778586970 0.00002
NM_006445.4(PRPF8):c.1311C>T (p.Ala437=) rs747870802 0.00002
NM_006445.4(PRPF8):c.2679G>A (p.Glu893=) rs1004311291 0.00002
NM_006445.4(PRPF8):c.3009C>T (p.His1003=) rs149785500 0.00002
NM_006445.4(PRPF8):c.3118A>G (p.Ile1040Val) rs749932316 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.3611A>G (p.Tyr1204Cys) rs558538478 0.00002
NM_006445.4(PRPF8):c.5376+6T>C rs369576067 0.00002
NM_006445.4(PRPF8):c.5987+3G>T rs368882006 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.6908A>G (p.Glu2303Gly) rs779481846 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.1082A>G (p.His361Arg) rs1236924890 0.00001
NM_006445.4(PRPF8):c.1115C>T (p.Pro372Leu) rs144200305 0.00001
NM_006445.4(PRPF8):c.1120G>C (p.Asp374His) rs1336664460 0.00001
NM_006445.4(PRPF8):c.1153G>A (p.Glu385Lys) rs1912806461 0.00001
NM_006445.4(PRPF8):c.1263C>T (p.Ala421=) rs886052615 0.00001
NM_006445.4(PRPF8):c.1295G>A (p.Arg432Gln) rs1487240808 0.00001
NM_006445.4(PRPF8):c.1385G>A (p.Arg462Gln) rs1278088065 0.00001
NM_006445.4(PRPF8):c.1401A>G (p.Gln467=) rs751438136 0.00001
NM_006445.4(PRPF8):c.16C>T (p.Pro6Ser) rs779716922 0.00001
NM_006445.4(PRPF8):c.1712C>G (p.Ala571Gly) rs1912748763 0.00001
NM_006445.4(PRPF8):c.1719+4A>G rs774567975 0.00001
NM_006445.4(PRPF8):c.187C>T (p.Pro63Ser) rs374410261 0.00001
NM_006445.4(PRPF8):c.2198C>T (p.Thr733Met) rs771458093 0.00001
NM_006445.4(PRPF8):c.2200C>T (p.Pro734Ser) rs1424625471 0.00001
NM_006445.4(PRPF8):c.2257A>G (p.Thr753Ala) rs1555553557 0.00001
NM_006445.4(PRPF8):c.2716G>A (p.Val906Ile) rs544253075 0.00001
NM_006445.4(PRPF8):c.2801G>T (p.Arg934Leu) rs902856213 0.00001
NM_006445.4(PRPF8):c.2806T>C (p.Phe936Leu) rs754299754 0.00001
NM_006445.4(PRPF8):c.2818A>G (p.Ile940Val) rs148919297 0.00001
NM_006445.4(PRPF8):c.2938C>T (p.Arg980Cys) rs781594036 0.00001
NM_006445.4(PRPF8):c.2939G>A (p.Arg980His) rs755497774 0.00001
NM_006445.4(PRPF8):c.3060+4C>T rs776890761 0.00001
NM_006445.4(PRPF8):c.3060+5G>A rs373156561 0.00001
NM_006445.4(PRPF8):c.322A>G (p.Met108Val) rs1226483167 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.336G>C (p.Gln112His) rs779897710 0.00001
NM_006445.4(PRPF8):c.3535A>G (p.Ser1179Gly) rs1477643212 0.00001
NM_006445.4(PRPF8):c.3541G>T (p.Asp1181Tyr) rs973440488 0.00001
NM_006445.4(PRPF8):c.3562A>G (p.Asn1188Asp) rs1196221841 0.00001
NM_006445.4(PRPF8):c.3568T>A (p.Cys1190Ser) rs778213468 0.00001
NM_006445.4(PRPF8):c.3577G>A (p.Glu1193Lys) rs1221014181 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.43C>T (p.Pro15Ser) rs761875801 0.00001
NM_006445.4(PRPF8):c.4509-3C>T rs535981694 0.00001
NM_006445.4(PRPF8):c.4619C>T (p.Pro1540Leu) rs1362834307 0.00001
NM_006445.4(PRPF8):c.50C>G (p.Pro17Arg) rs1281548539 0.00001
NM_006445.4(PRPF8):c.5231G>A (p.Arg1744His) rs1911521689 0.00001
NM_006445.4(PRPF8):c.5739G>T (p.Gln1913His) rs1911394288 0.00001
NM_006445.4(PRPF8):c.5881A>G (p.Ile1961Val) rs758386812 0.00001
NM_006445.4(PRPF8):c.601G>A (p.Ala201Thr) rs745619115 0.00001
NM_006445.4(PRPF8):c.6050C>T (p.Ser2017Leu) rs914967064 0.00001
NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=) rs761118301 0.00001
NM_006445.4(PRPF8):c.6263A>G (p.Asn2088Ser) rs763727794 0.00001
NM_006445.4(PRPF8):c.6297G>C (p.Glu2099Asp) rs1463152553 0.00001
NM_006445.4(PRPF8):c.6361C>T (p.Arg2121Trp) rs867684763 0.00001
NM_006445.4(PRPF8):c.6427C>T (p.Arg2143Cys) rs1206536203 0.00001
NM_006445.4(PRPF8):c.6428G>A (p.Arg2143His) rs1200243929 0.00001
NM_006445.4(PRPF8):c.653+8A>G rs538280331 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.6859C>T (p.Arg2287Trp) rs1293883059 0.00001
NM_006445.4(PRPF8):c.6872A>G (p.Asn2291Ser) rs993874202 0.00001
NM_006445.4(PRPF8):c.6955C>T (p.Leu2319Phe) rs925931390 0.00001
NM_006445.4(PRPF8):c.6967G>T (p.Gly2323Trp) rs1910997588 0.00001
NM_006445.4(PRPF8):c.783G>C (p.Lys261Asn) rs749712016 0.00001
NM_006445.4(PRPF8):c.935A>T (p.Tyr312Phe) rs940657634 0.00001
NC_000017.10:g.(?_1554096)_(1557330_?)dup
NC_000017.10:g.(?_1554096)_(1585004_?)dup
NC_000017.10:g.(?_1577736)_(1587865_?)dup
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.-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.1003C>T (p.Pro335Ser)
NM_006445.4(PRPF8):c.101-8C>T rs369806898
NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu) rs774010147
NM_006445.4(PRPF8):c.1093G>A (p.Val365Ile) rs1912871372
NM_006445.4(PRPF8):c.1098+6G>T
NM_006445.4(PRPF8):c.1149T>G (p.Phe383Leu) rs755301153
NM_006445.4(PRPF8):c.1151T>G (p.Val384Gly)
NM_006445.4(PRPF8):c.1175C>T (p.Pro392Leu)
NM_006445.4(PRPF8):c.1199A>G (p.Asn400Ser)
NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val) rs1912802818
NM_006445.4(PRPF8):c.1226G>A (p.Arg409Gln) rs1330263474
NM_006445.4(PRPF8):c.1235A>C (p.Asn412Thr) rs778586970
NM_006445.4(PRPF8):c.1244C>G (p.Ser415Cys) rs1237555096
NM_006445.4(PRPF8):c.1261G>T (p.Ala421Ser)
NM_006445.4(PRPF8):c.1289+6G>T
NM_006445.4(PRPF8):c.1290-16G>A
NM_006445.4(PRPF8):c.1292A>G (p.Tyr431Cys)
NM_006445.4(PRPF8):c.1294C>T (p.Arg432Trp) rs772894195
NM_006445.4(PRPF8):c.1309G>A (p.Ala437Thr)
NM_006445.4(PRPF8):c.1317G>T (p.Gln439His) rs1912780617
NM_006445.4(PRPF8):c.1327G>A (p.Val443Met) rs1912780438
NM_006445.4(PRPF8):c.1348C>G (p.Leu450Val)
NM_006445.4(PRPF8):c.1384C>T (p.Arg462Trp) rs756080435
NM_006445.4(PRPF8):c.1393A>G (p.Lys465Glu) rs1476803040
NM_006445.4(PRPF8):c.1409+3A>G rs1267501512
NM_006445.4(PRPF8):c.1420C>A (p.Arg474Ser)
NM_006445.4(PRPF8):c.1423T>C (p.Ser475Pro)
NM_006445.4(PRPF8):c.1435A>T (p.Thr479Ser) rs1912768305
NM_006445.4(PRPF8):c.1439A>G (p.Lys480Arg)
NM_006445.4(PRPF8):c.1447C>G (p.Gln483Glu) rs1912767831
NM_006445.4(PRPF8):c.1612T>C (p.Ser538Pro)
NM_006445.4(PRPF8):c.1648G>T (p.Val550Phe)
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.1691A>G (p.Tyr564Cys) rs1025677958
NM_006445.4(PRPF8):c.1694G>A (p.Arg565Gln) rs2151129624
NM_006445.4(PRPF8):c.169C>A (p.Gln57Lys)
NM_006445.4(PRPF8):c.1736A>G (p.Gln579Arg) rs2151129473
NM_006445.4(PRPF8):c.1741A>C (p.Ile581Leu)
NM_006445.4(PRPF8):c.1741A>G (p.Ile581Val)
NM_006445.4(PRPF8):c.1752T>A (p.His584Gln)
NM_006445.4(PRPF8):c.178G>A (p.Asp60Asn)
NM_006445.4(PRPF8):c.1799G>A (p.Arg600Gln)
NM_006445.4(PRPF8):c.17C>T (p.Pro6Leu) rs2151133802
NM_006445.4(PRPF8):c.181A>G (p.Met61Val)
NM_006445.4(PRPF8):c.182T>C (p.Met61Thr) rs1913058338
NM_006445.4(PRPF8):c.1838A>G (p.Tyr613Cys) rs2151129405
NM_006445.4(PRPF8):c.183G>A (p.Met61Ile)
NM_006445.4(PRPF8):c.1844G>A (p.Arg615His)
NM_006445.4(PRPF8):c.1854+3G>A
NM_006445.4(PRPF8):c.1855-5C>A
NM_006445.4(PRPF8):c.1890_1894del (p.Trp630fs) rs1555553703
NM_006445.4(PRPF8):c.1894G>A (p.Ala632Thr)
NM_006445.4(PRPF8):c.1897G>A (p.Gly633Ser)
NM_006445.4(PRPF8):c.1912C>T (p.Leu638Phe)
NM_006445.4(PRPF8):c.1948C>T (p.Arg650Ter)
NM_006445.4(PRPF8):c.1969G>T (p.Ala657Ser)
NM_006445.4(PRPF8):c.1984+6T>A
NM_006445.4(PRPF8):c.1994C>A (p.Ser665Ter)
NM_006445.4(PRPF8):c.2093C>T (p.Pro698Leu)
NM_006445.4(PRPF8):c.2140A>G (p.Ser714Gly)
NM_006445.4(PRPF8):c.2170A>G (p.Ile724Val)
NM_006445.4(PRPF8):c.2181+4G>A rs1357233581
NM_006445.4(PRPF8):c.2181+5G>A rs747396457
NM_006445.4(PRPF8):c.2181+5del rs776292405
NM_006445.4(PRPF8):c.2181G>A (p.Lys727=)
NM_006445.4(PRPF8):c.2182-6dup rs779420760
NM_006445.4(PRPF8):c.2195C>T (p.Pro732Leu) rs1912617850
NM_006445.4(PRPF8):c.2203A>G (p.Ile735Val)
NM_006445.4(PRPF8):c.2252C>G (p.Thr751Ser)
NM_006445.4(PRPF8):c.2255A>G (p.Asn752Ser)
NM_006445.4(PRPF8):c.230C>T (p.Thr77Ile)
NM_006445.4(PRPF8):c.2313_2316del (p.Cys772fs)
NM_006445.4(PRPF8):c.2389-6T>G
NM_006445.4(PRPF8):c.239del (p.Lys80fs) rs1913055670
NM_006445.4(PRPF8):c.2440G>A (p.Val814Met)
NM_006445.4(PRPF8):c.2453A>G (p.Glu818Gly) rs1912599686
NM_006445.4(PRPF8):c.2458C>T (p.Arg820Cys)
NM_006445.4(PRPF8):c.2471C>G (p.Pro824Arg)
NM_006445.4(PRPF8):c.2515C>T (p.Leu839Phe) rs2151128041
NM_006445.4(PRPF8):c.2564G>A (p.Arg855Gln) rs2151127926
NM_006445.4(PRPF8):c.257G>C (p.Arg86Thr)
NM_006445.4(PRPF8):c.2602G>A (p.Glu868Lys) rs2151127906
NM_006445.4(PRPF8):c.2665_2668del (p.Arg889fs) rs1912582692
NM_006445.4(PRPF8):c.2679+5G>A rs747734056
NM_006445.4(PRPF8):c.2680-9G>A rs886052614
NM_006445.4(PRPF8):c.2680G>A (p.Val894Met) rs1912576146
NM_006445.4(PRPF8):c.2684G>C (p.Gly895Ala)
NM_006445.4(PRPF8):c.2701C>A (p.Leu901Met)
NM_006445.4(PRPF8):c.2712C>G (p.His904Gln)
NM_006445.4(PRPF8):c.2737C>T (p.Pro913Ser) rs2151127771
NM_006445.4(PRPF8):c.2759C>T (p.Ala920Val)
NM_006445.4(PRPF8):c.2789C>T (p.Ala930Val) rs1912573317
NM_006445.4(PRPF8):c.2798G>A (p.Arg933His)
NM_006445.4(PRPF8):c.2800C>T (p.Arg934Cys)
NM_006445.4(PRPF8):c.2872+5A>T rs1912570944
NM_006445.4(PRPF8):c.2879A>G (p.Asn960Ser) rs1912553788
NM_006445.4(PRPF8):c.2888A>G (p.Gln963Arg)
NM_006445.4(PRPF8):c.2893G>A (p.Val965Met)
NM_006445.4(PRPF8):c.2921A>G (p.Asn974Ser)
NM_006445.4(PRPF8):c.2926A>G (p.Met976Val)
NM_006445.4(PRPF8):c.2952G>A (p.Met984Ile)
NM_006445.4(PRPF8):c.2964C>T (p.Ile988=)
NM_006445.4(PRPF8):c.3017C>T (p.Ala1006Val) rs1201048866
NM_006445.4(PRPF8):c.3039del (p.Asn1013fs) rs2151127334
NM_006445.4(PRPF8):c.3046G>A (p.Val1016Ile) rs1008559652
NM_006445.4(PRPF8):c.3049A>G (p.Ile1017Val)
NM_006445.4(PRPF8):c.3053A>G (p.Asn1018Ser) rs2151127313
NM_006445.4(PRPF8):c.3061-14TTCT[2]
NM_006445.4(PRPF8):c.3061-15G>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.3126G>C (p.Gln1042His) rs978250052
NM_006445.4(PRPF8):c.3150G>C (p.Leu1050Phe) rs2151126880
NM_006445.4(PRPF8):c.3154G>T (p.Val1052Leu) rs886052613
NM_006445.4(PRPF8):c.3166C>T (p.His1056Tyr)
NM_006445.4(PRPF8):c.3199A>T (p.Met1067Leu)
NM_006445.4(PRPF8):c.319C>T (p.Pro107Ser)
NM_006445.4(PRPF8):c.3224A>G (p.Gln1075Arg) rs2151126834
NM_006445.4(PRPF8):c.3224A>T (p.Gln1075Leu)
NM_006445.4(PRPF8):c.3231A>G (p.Ile1077Met)
NM_006445.4(PRPF8):c.3238G>A (p.Glu1080Lys)
NM_006445.4(PRPF8):c.3252C>G (p.Pro1084=) rs746764862
NM_006445.4(PRPF8):c.3263T>C (p.Phe1088Ser) rs1912508817
NM_006445.4(PRPF8):c.3281G>A (p.Arg1094His)
NM_006445.4(PRPF8):c.3298A>C (p.Arg1100=)
NM_006445.4(PRPF8):c.32G>A (p.Gly11Asp)
NM_006445.4(PRPF8):c.3300G>T (p.Arg1100Ser)
NM_006445.4(PRPF8):c.3304A>G (p.Thr1102Ala)
NM_006445.4(PRPF8):c.3319C>T (p.Arg1107Trp) rs2151126253
NM_006445.4(PRPF8):c.3334C>T (p.Arg1112Cys)
NM_006445.4(PRPF8):c.3353del (p.Pro1118fs) rs1912459271
NM_006445.4(PRPF8):c.3361A>G (p.Asn1121Asp)
NM_006445.4(PRPF8):c.3368A>G (p.Glu1123Gly) rs1912457869
NM_006445.4(PRPF8):c.3376G>A (p.Val1126Ile)
NM_006445.4(PRPF8):c.3398G>T (p.Cys1133Phe)
NM_006445.4(PRPF8):c.340C>G (p.Arg114Gly)
NM_006445.4(PRPF8):c.340C>T (p.Arg114Trp) rs146929391
NM_006445.4(PRPF8):c.3427A>G (p.Met1143Val)
NM_006445.4(PRPF8):c.3452G>A (p.Arg1151Gln)
NM_006445.4(PRPF8):c.3484C>G (p.Pro1162Ala) rs2151125963
NM_006445.4(PRPF8):c.3502G>A (p.Val1168Ile)
NM_006445.4(PRPF8):c.3523G>A (p.Val1175Met)
NM_006445.4(PRPF8):c.3523G>C (p.Val1175Leu)
NM_006445.4(PRPF8):c.3536G>A (p.Ser1179Asn)
NM_006445.4(PRPF8):c.3563A>C (p.Asn1188Thr) rs2151125894
NM_006445.4(PRPF8):c.3566T>C (p.Met1189Thr)
NM_006445.4(PRPF8):c.356T>C (p.Leu119Pro)
NM_006445.4(PRPF8):c.3583C>T (p.Arg1195Cys)
NM_006445.4(PRPF8):c.3584G>A (p.Arg1195His)
NM_006445.4(PRPF8):c.3588C>G (p.Ile1196Met)
NM_006445.4(PRPF8):c.358T>C (p.Tyr120His)
NM_006445.4(PRPF8):c.35_49dup (p.Gly16_Pro17insHisProValProGly)
NM_006445.4(PRPF8):c.3614A>C (p.Glu1205Ala) rs2151125843
NM_006445.4(PRPF8):c.361C>G (p.His121Asp)
NM_006445.4(PRPF8):c.3657+9T>C rs886052612
NM_006445.4(PRPF8):c.3658-17T>G rs773449766
NM_006445.4(PRPF8):c.3666G>A (p.Lys1222=) rs549397527
NM_006445.4(PRPF8):c.3675A>G (p.Thr1225=)
NM_006445.4(PRPF8):c.3689T>A (p.Leu1230Gln) rs2151125640
NM_006445.4(PRPF8):c.36C>G (p.Asn12Lys)
NM_006445.4(PRPF8):c.3709A>G (p.Met1237Val) rs1053250821
NM_006445.4(PRPF8):c.3728G>A (p.Arg1243His) rs1219818327
NM_006445.4(PRPF8):c.3730G>A (p.Val1244Met)
NM_006445.4(PRPF8):c.3812T>C (p.Met1271Thr) rs1911702506
NM_006445.4(PRPF8):c.3816A>G (p.Thr1272=) rs1911702394
NM_006445.4(PRPF8):c.3884T>C (p.Ile1295Thr)
NM_006445.4(PRPF8):c.3893G>A (p.Arg1298His) rs2151116846
NM_006445.4(PRPF8):c.3905G>A (p.Gly1302Glu)
NM_006445.4(PRPF8):c.3935C>A (p.Pro1312His)
NM_006445.4(PRPF8):c.3975C>A (p.Leu1325=)
NM_006445.4(PRPF8):c.3988A>G (p.Met1330Val)
NM_006445.4(PRPF8):c.4037C>T (p.Thr1346Ile) rs2151116688
NM_006445.4(PRPF8):c.4042G>A (p.Val1348Ile)
NM_006445.4(PRPF8):c.405C>A (p.Val135=) rs1912966508
NM_006445.4(PRPF8):c.4061G>A (p.Arg1354His)
NM_006445.4(PRPF8):c.4072A>C (p.Ser1358Arg) rs1351359957
NM_006445.4(PRPF8):c.4083A>C (p.Glu1361Asp) rs773400326
NM_006445.4(PRPF8):c.4103T>C (p.Leu1368Ser)
NM_006445.4(PRPF8):c.4114A>G (p.Ile1372Val) rs1911685243
NM_006445.4(PRPF8):c.4150C>T (p.Arg1384Trp) rs1911684227
NM_006445.4(PRPF8):c.4196A>G (p.Gln1399Arg) rs2151116638
NM_006445.4(PRPF8):c.4203-14T>C
NM_006445.4(PRPF8):c.4203-18T>G rs2151116516
NM_006445.4(PRPF8):c.4279C>T (p.Arg1427Trp)
NM_006445.4(PRPF8):c.4280G>A (p.Arg1427Gln)
NM_006445.4(PRPF8):c.4338+6T>A rs1240784041
NM_006445.4(PRPF8):c.4339-2A>G rs2151116387
NM_006445.4(PRPF8):c.4339-7C>T rs1911661181
NM_006445.4(PRPF8):c.4339-8C>G rs2151116389
NM_006445.4(PRPF8):c.434+1dup rs746170558
NM_006445.4(PRPF8):c.434+5G>T
NM_006445.4(PRPF8):c.435-3C>T rs112242959
NM_006445.4(PRPF8):c.4394G>A (p.Trp1465Ter) rs1911659345
NM_006445.4(PRPF8):c.440T>C (p.Met147Thr) rs1193857646
NM_006445.4(PRPF8):c.4428_4429del (p.Gln1476fs)
NM_006445.4(PRPF8):c.4508+3G>A
NM_006445.4(PRPF8):c.458G>A (p.Arg153Gln)
NM_006445.4(PRPF8):c.4600T>C (p.Phe1534Leu)
NM_006445.4(PRPF8):c.4635C>T (p.Ala1545=)
NM_006445.4(PRPF8):c.4638T>C (p.Asn1546=)
NM_006445.4(PRPF8):c.4673C>T (p.Thr1558Met)
NM_006445.4(PRPF8):c.4687C>T (p.His1563Tyr)
NM_006445.4(PRPF8):c.4772T>C (p.Met1591Thr)
NM_006445.4(PRPF8):c.4780T>C (p.Cys1594Arg) rs1911623254
NM_006445.4(PRPF8):c.4780_4784del (p.Cys1594fs) rs1911622593
NM_006445.4(PRPF8):c.4781G>A (p.Cys1594Tyr)
NM_006445.4(PRPF8):c.4789T>C (p.Phe1597Leu)
NM_006445.4(PRPF8):c.4792G>C (p.Asp1598His) rs759664867
NM_006445.4(PRPF8):c.4793A>T (p.Asp1598Val)
NM_006445.4(PRPF8):c.47G>C (p.Gly16Ala)
NM_006445.4(PRPF8):c.4816A>G (p.Ile1606Val)
NM_006445.4(PRPF8):c.4901C>G (p.Ser1634Cys)
NM_006445.4(PRPF8):c.4901C>T (p.Ser1634Phe) rs2151115488
NM_006445.4(PRPF8):c.4912A>C (p.Asn1638His)
NM_006445.4(PRPF8):c.4946+3_4946+6del
NM_006445.4(PRPF8):c.4985T>C (p.Ile1662Thr)
NM_006445.4(PRPF8):c.4987G>A (p.Asp1663Asn)
NM_006445.4(PRPF8):c.4G>A (p.Ala2Thr)
NM_006445.4(PRPF8):c.5000G>A (p.Arg1667His) rs768194464
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=) rs794727562
NM_006445.4(PRPF8):c.5026A>G (p.Ile1676Val) rs1366034263
NM_006445.4(PRPF8):c.5038G>A (p.Ala1680Thr)
NM_006445.4(PRPF8):c.5038G>T (p.Ala1680Ser) rs1298791789
NM_006445.4(PRPF8):c.5110G>A (p.Ala1704Thr)
NM_006445.4(PRPF8):c.5113A>G (p.Ile1705Val)
NM_006445.4(PRPF8):c.5138+5G>T rs377003550
NM_006445.4(PRPF8):c.5186C>A (p.Ala1729Asp) rs2151114664
NM_006445.4(PRPF8):c.5207C>T (p.Ala1736Val)
NM_006445.4(PRPF8):c.5238G>T (p.Arg1746=) rs374611477
NM_006445.4(PRPF8):c.5285A>C (p.Tyr1762Ser) rs1911519224
NM_006445.4(PRPF8):c.5308G>A (p.Glu1770Lys)
NM_006445.4(PRPF8):c.534T>C (p.Tyr178=) rs886052616
NM_006445.4(PRPF8):c.5377-1G>T rs1911505318
NM_006445.4(PRPF8):c.5413G>A (p.Gly1805Arg) rs1597230180
NM_006445.4(PRPF8):c.5429T>C (p.Phe1810Ser) rs2151114414
NM_006445.4(PRPF8):c.5471C>T (p.Thr1824Met) rs1911502120
NM_006445.4(PRPF8):c.5491A>G (p.Lys1831Glu) rs2151114374
NM_006445.4(PRPF8):c.5506-5T>G rs2151113236
NM_006445.4(PRPF8):c.5508G>A (p.Leu1836=)
NM_006445.4(PRPF8):c.550G>C (p.Asp184His) rs2151131953
NM_006445.4(PRPF8):c.5548C>T (p.Arg1850Ter) rs368223523
NM_006445.4(PRPF8):c.5578C>G (p.Gln1860Glu)
NM_006445.4(PRPF8):c.5594G>A (p.Arg1865Lys) rs1911407117
NM_006445.4(PRPF8):c.5594G>C (p.Arg1865Thr) rs1911407117
NM_006445.4(PRPF8):c.55G>A (p.Ala19Thr) rs2151133760
NM_006445.4(PRPF8):c.5619+2T>C rs1911406583
NM_006445.4(PRPF8):c.5642A>G (p.Asn1881Ser)
NM_006445.4(PRPF8):c.5660C>T (p.Ser1887Leu)
NM_006445.4(PRPF8):c.5662G>A (p.Glu1888Lys) rs2151113106
NM_006445.4(PRPF8):c.5707G>A (p.Gly1903Arg)
NM_006445.4(PRPF8):c.571A>G (p.Ile191Val) rs1015837182
NM_006445.4(PRPF8):c.5769G>A (p.Trp1923Ter)
NM_006445.4(PRPF8):c.578T>C (p.Leu193Pro)
NM_006445.4(PRPF8):c.5793+4T>C rs756622180
NM_006445.4(PRPF8):c.57C>G (p.Ala19=) rs943865335
NM_006445.4(PRPF8):c.5801C>G (p.Ser1934Cys) rs1911322438
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.5804G>T (p.Arg1935Leu)
NM_006445.4(PRPF8):c.5806C>G (p.Leu1936Val)
NM_006445.4(PRPF8):c.580G>C (p.Glu194Gln)
NM_006445.4(PRPF8):c.5840A>G (p.Asn1947Ser) rs1555550610
NM_006445.4(PRPF8):c.5848G>A (p.Ala1950Thr) rs2151112459
NM_006445.4(PRPF8):c.5849C>A (p.Ala1950Glu)
NM_006445.4(PRPF8):c.5864A>G (p.Lys1955Arg) rs1597227679
NM_006445.4(PRPF8):c.5866C>G (p.Pro1956Ala)
NM_006445.4(PRPF8):c.5870A>T (p.Asp1957Val) rs1567676517
NM_006445.4(PRPF8):c.5871C>G (p.Asp1957Glu)
NM_006445.4(PRPF8):c.5875A>G (p.Thr1959Ala)
NM_006445.4(PRPF8):c.5889A>C (p.Glu1963Asp)
NM_006445.4(PRPF8):c.5915C>A (p.Thr1972Asn) rs1167214600
NM_006445.4(PRPF8):c.5930T>C (p.Ile1977Thr) rs1420322473
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=) rs758937794
NM_006445.4(PRPF8):c.5951A>G (p.Lys1984Arg) rs1911312551
NM_006445.4(PRPF8):c.5974G>A (p.Gly1992Ser)
NM_006445.4(PRPF8):c.5987+6C>T
NM_006445.4(PRPF8):c.59C>G (p.Pro20Arg) rs769676574
NM_006445.4(PRPF8):c.59C>T (p.Pro20Leu)
NM_006445.4(PRPF8):c.602C>A (p.Ala201Asp) rs982996032
NM_006445.4(PRPF8):c.6062A>T (p.Gln2021Leu)
NM_006445.4(PRPF8):c.6066G>A (p.Gln2022=)
NM_006445.4(PRPF8):c.6068G>A (p.Arg2023Gln) rs2151111382
NM_006445.4(PRPF8):c.6146A>G (p.Lys2049Arg)
NM_006445.4(PRPF8):c.6159G>C (p.Glu2053Asp)
NM_006445.4(PRPF8):c.6172_6283del112 (p.Asn2061fs)
NM_006445.4(PRPF8):c.6178A>G (p.Ser2060Gly)
NM_006445.4(PRPF8):c.6185A>G (p.Tyr2062Cys) rs1911208942
NM_006445.4(PRPF8):c.6189G>T (p.Glu2063Asp) rs2151111316
NM_006445.4(PRPF8):c.6191C>A (p.Thr2064Asn)
NM_006445.4(PRPF8):c.6192_6193delinsAG (p.Gln2065Glu) rs1911208576
NM_006445.4(PRPF8):c.6194A>G (p.Gln2065Arg) rs1911208451
NM_006445.4(PRPF8):c.6230C>A (p.Ala2077Asp) rs2151111227
NM_006445.4(PRPF8):c.6250C>G (p.His2084Asp) rs1911199156
NM_006445.4(PRPF8):c.625G>A (p.Asp209Asn)
NM_006445.4(PRPF8):c.6268A>G (p.Ile2090Val) rs1911198453
NM_006445.4(PRPF8):c.6272A>G (p.Tyr2091Cys) rs2151111203
NM_006445.4(PRPF8):c.6286G>A (p.Asp2096Asn)
NM_006445.4(PRPF8):c.6289A>G (p.Ile2097Val) rs2151111193
NM_006445.4(PRPF8):c.6299C>T (p.Thr2100Ile) rs2151111184
NM_006445.4(PRPF8):c.6369+3_6369+6del
NM_006445.4(PRPF8):c.6369+4A>T rs2151111149
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.6446C>T (p.Pro2149Leu)
NM_006445.4(PRPF8):c.6446_6447insCAC (p.Pro2149_Gln2150insThr) rs1911082583
NM_006445.4(PRPF8):c.6449A>G (p.Gln2150Arg) rs1911081749
NM_006445.4(PRPF8):c.644A>G (p.Asp215Gly) rs1567692547
NM_006445.4(PRPF8):c.6453G>C (p.Trp2151Cys) rs2151109782
NM_006445.4(PRPF8):c.645C>T (p.Asp215=) rs758699232
NM_006445.4(PRPF8):c.6461A>G (p.His2154Arg) rs1911081044
NM_006445.4(PRPF8):c.6462C>A (p.His2154Gln)
NM_006445.4(PRPF8):c.6466A>C (p.Thr2156Pro) rs2151109770
NM_006445.4(PRPF8):c.6469G>A (p.Val2157Met)
NM_006445.4(PRPF8):c.6470T>A (p.Val2157Glu) rs878853388
NM_006445.4(PRPF8):c.6473_6474del (p.His2158fs)
NM_006445.4(PRPF8):c.6480_6491del (p.Gly2161_Pro2164del) rs1597224402
NM_006445.4(PRPF8):c.64C>T (p.Pro22Ser)
NM_006445.4(PRPF8):c.6505C>T (p.Leu2169Phe)
NM_006445.4(PRPF8):c.6510+5T>C
NM_006445.4(PRPF8):c.653A>G (p.Lys218Arg) rs1912946069
NM_006445.4(PRPF8):c.654G>A (p.Lys218=)
NM_006445.4(PRPF8):c.6565T>C (p.Ser2189Pro) rs929492529
NM_006445.4(PRPF8):c.6595A>G (p.Ile2199Val)
NM_006445.4(PRPF8):c.6634A>G (p.Ile2212Val)
NM_006445.4(PRPF8):c.6650+4G>A
NM_006445.4(PRPF8):c.6651-3C>A rs1467838102
NM_006445.4(PRPF8):c.6702C>G (p.Gly2234=) rs1911040337
NM_006445.4(PRPF8):c.6706G>A (p.Glu2236Lys)
NM_006445.4(PRPF8):c.6740A>G (p.Asn2247Ser)
NM_006445.4(PRPF8):c.6783G>A (p.Met2261Ile) rs886052611
NM_006445.4(PRPF8):c.680G>T (p.Arg227Leu) rs11559304
NM_006445.4(PRPF8):c.6821C>T (p.Pro2274Leu) rs1597223721
NM_006445.4(PRPF8):c.6833C>G (p.Ser2278Trp)
NM_006445.4(PRPF8):c.6833C>T (p.Ser2278Leu) rs1327478855
NM_006445.4(PRPF8):c.6837G>C (p.Trp2279Cys)
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.6852G>A (p.Met2284Ile)
NM_006445.4(PRPF8):c.6853+3A>C
NM_006445.4(PRPF8):c.6854-14C>A rs573493017
NM_006445.4(PRPF8):c.686A>G (p.Gln229Arg)
NM_006445.4(PRPF8):c.6895G>A (p.Ala2299Thr)
NM_006445.4(PRPF8):c.6898A>G (p.Asn2300Asp)
NM_006445.4(PRPF8):c.68A>T (p.Asp23Val)
NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu) rs2151109012
NM_006445.4(PRPF8):c.6906A>C (p.Lys2302Asn)
NM_006445.4(PRPF8):c.6906A>T (p.Lys2302Asn)
NM_006445.4(PRPF8):c.6910T>G (p.Phe2304Val) rs1911004419
NM_006445.4(PRPF8):c.6918C>G (p.His2306Gln) rs756489004
NM_006445.4(PRPF8):c.6925C>G (p.His2309Asp) rs2151108985
NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu) rs121434236
NM_006445.4(PRPF8):c.6931C>T (p.Pro2311Ser)
NM_006445.4(PRPF8):c.6938A>G (p.His2313Arg) rs1555550045
NM_006445.4(PRPF8):c.6946_6947dup (p.Asn2316fs)
NM_006445.4(PRPF8):c.6949T>A (p.Phe2317Ile) rs1027069873
NM_006445.4(PRPF8):c.6959T>G (p.Leu2320Arg)
NM_006445.4(PRPF8):c.6962A>T (p.Gln2321Leu)
NM_006445.4(PRPF8):c.6966G>T (p.Glu2322Asp) rs766407266
NM_006445.4(PRPF8):c.6967G>A (p.Gly2323Arg) rs1910997588
NM_006445.4(PRPF8):c.6968G>A (p.Gly2323Glu) rs2151108937
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006445.4(PRPF8):c.6978C>G (p.Tyr2326Ter) rs773363890
NM_006445.4(PRPF8):c.6983C>T (p.Ala2328Val)
NM_006445.4(PRPF8):c.6986_6990dup (p.Glu2331fs) rs2151108913
NM_006445.4(PRPF8):c.6989G>C (p.Arg2330Pro) rs1192693354
NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys) rs1597223220
NM_006445.4(PRPF8):c.6994G>T (p.Asp2332Tyr)
NM_006445.4(PRPF8):c.6996C>A (p.Asp2332Glu) rs1162009923
NM_006445.4(PRPF8):c.7002T>G (p.Tyr2334Ter) rs757906173
NM_006445.4(PRPF8):c.7003_*27del (p.Ala2335_Ter2336del)
NM_006445.4(PRPF8):c.703A>G (p.Met235Val)
NM_006445.4(PRPF8):c.716A>G (p.Tyr239Cys)
NM_006445.4(PRPF8):c.76T>A (p.Ser26Thr) rs2151133732
NM_006445.4(PRPF8):c.77C>T (p.Ser26Leu)
NM_006445.4(PRPF8):c.802G>A (p.Ala268Thr) rs1280004435
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser) rs756656471
NM_006445.4(PRPF8):c.833A>G (p.Lys278Arg)
NM_006445.4(PRPF8):c.851G>A (p.Arg284Gln) rs1912920951
NM_006445.4(PRPF8):c.866+3G>A
NM_006445.4(PRPF8):c.866A>G (p.Gln289Arg)
NM_006445.4(PRPF8):c.867-14A>C rs1912894972
NM_006445.4(PRPF8):c.867-5C>G
NM_006445.4(PRPF8):c.869A>G (p.Asp290Gly)
NM_006445.4(PRPF8):c.87_98dup (p.Lys33_Ala34insLeuGlnGluLys)
NM_006445.4(PRPF8):c.890_891delinsGC (p.Asn297Ser) rs2151131273
NM_006445.4(PRPF8):c.898A>G (p.Asn300Asp) rs2151131263
NM_006445.4(PRPF8):c.914G>T (p.Arg305Leu)
NM_006445.4(PRPF8):c.926G>A (p.Arg309His) rs775023296
NM_006445.4(PRPF8):c.944C>T (p.Ala315Val) rs773955596
NM_006445.4(PRPF8):c.961A>G (p.Asn321Asp)
NM_006445.4(PRPF8):c.965A>G (p.Asn322Ser)
NM_006445.4(PRPF8):c.971C>T (p.Pro324Leu)
NM_006445.4(PRPF8):c.98A>T (p.Lys33Ile)

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