ClinVar Miner

List of variants in gene PRPF8 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 110
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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.*11G>T rs767915818 0.00006
NM_006445.4(PRPF8):c.6511-3T>C rs199665387 0.00006
NM_006445.4(PRPF8):c.6447G>A (p.Pro2149=) rs140315637 0.00005
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.*167A>G rs753906300 0.00003
NM_006445.4(PRPF8):c.2790C>T (p.Ala930=) rs779910932 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.1311C>T (p.Ala437=) rs747870802 0.00002
NM_006445.4(PRPF8):c.3009C>T (p.His1003=) rs149785500 0.00002
NM_006445.4(PRPF8):c.6078C>T (p.Ile2026=) rs374672916 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.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.360C>T (p.Tyr120=) rs764798990 0.00001
NM_006445.4(PRPF8):c.3699C>T (p.Asp1233=) rs753683243 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.6801C>T (p.Phe2267=) rs755962697 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.1653G>A (p.Leu551=) rs1912753368
NM_006445.4(PRPF8):c.2182-6dup rs779420760
NM_006445.4(PRPF8):c.2680-9G>A rs886052614
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.3252C>G (p.Pro1084=) rs746764862
NM_006445.4(PRPF8):c.3657+9T>C rs886052612
NM_006445.4(PRPF8):c.3666G>A (p.Lys1222=) rs549397527
NM_006445.4(PRPF8):c.534T>C (p.Tyr178=) rs886052616
NM_006445.4(PRPF8):c.6414G>C (p.Gln2138His) rs1911084608
NM_006445.4(PRPF8):c.645C>T (p.Asp215=) rs758699232
NM_006445.4(PRPF8):c.6565T>C (p.Ser2189Pro) rs929492529
NM_006445.4(PRPF8):c.6783G>A (p.Met2261Ile) rs886052611
NM_006445.4(PRPF8):c.6854-14C>A rs573493017
NM_006445.4(PRPF8):c.6854-4G>A rs75996323
NM_006445.4(PRPF8):c.867-14A>C rs1912894972

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