ClinVar Miner

List of variants in gene PRPF8 reported as benign by Invitae

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Gene type:
ClinVar version:
Total variants: 84
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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.4639-17T>G rs73976249 0.04914
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.4503T>C (p.Leu1501=) rs34536905 0.00369
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.1666C>T (p.Leu556=) rs139305061 0.00208
NM_006445.4(PRPF8):c.1929C>T (p.Gly643=) rs140040625 0.00207
NM_006445.4(PRPF8):c.5619+16G>C rs143752933 0.00198
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.52C>T (p.Leu18=) rs148531352 0.00121
NM_006445.4(PRPF8):c.992+18C>A rs375914297 0.00109
NM_006445.4(PRPF8):c.306C>T (p.Leu102=) rs113874709 0.00104
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.6382C>T (p.Leu2128=) rs138076455 0.00069
NM_006445.4(PRPF8):c.4674G>A (p.Thr1558=) rs140446903 0.00062
NM_006445.4(PRPF8):c.5748C>T (p.Leu1916=) rs34024815 0.00057
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.4524C>T (p.Gly1508=) rs144851263 0.00039
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.4689C>T (p.His1563=) rs148287873 0.00031
NM_006445.4(PRPF8):c.4339-20G>A rs376308412 0.00029
NM_006445.4(PRPF8):c.4022+15A>G rs370376159 0.00025
NM_006445.4(PRPF8):c.1855-4G>A rs201225203 0.00024
NM_006445.4(PRPF8):c.3657+13C>T rs141542320 0.00019
NM_006445.4(PRPF8):c.5538C>T (p.Ala1846=) rs372925838 0.00016
NM_006445.4(PRPF8):c.283A>G (p.Met95Val) rs373157040 0.00009
NM_006445.4(PRPF8):c.653+17G>A rs187587793 0.00008
NM_006445.4(PRPF8):c.101-18A>G rs761711970 0.00007
NM_006445.4(PRPF8):c.690C>T (p.Phe230=) rs200640834 0.00006
NM_006445.4(PRPF8):c.2613C>T (p.Tyr871=) rs764282969 0.00005
NM_006445.4(PRPF8):c.2517C>T (p.Leu839=) rs537936200 0.00004
NM_006445.4(PRPF8):c.2619C>T (p.Asn873=) rs760867601 0.00003
NM_006445.4(PRPF8):c.72C>T (p.Tyr24=) rs557206853 0.00003
NM_006445.4(PRPF8):c.6147G>A (p.Lys2049=) rs774814974 0.00002
NM_006445.4(PRPF8):c.1099-8T>C rs200865270 0.00001
NM_006445.4(PRPF8):c.1410-19C>G rs574115002 0.00001
NM_006445.4(PRPF8):c.2382C>T (p.Tyr794=) rs368348291 0.00001
NM_006445.4(PRPF8):c.4638+11T>C rs773323136 0.00001
NM_006445.4(PRPF8):c.4785+13C>T rs777829012 0.00001
NM_006445.4(PRPF8):c.5377-13C>T rs758433316 0.00001
NM_006445.4(PRPF8):c.1600-14dup rs1268619483
NM_006445.4(PRPF8):c.2013A>G (p.Thr671=) rs574075876
NM_006445.4(PRPF8):c.2182-3del
NM_006445.4(PRPF8):c.2182-6dup rs779420760
NM_006445.4(PRPF8):c.2319A>G (p.Lys773=)
NM_006445.4(PRPF8):c.2388+17T>G
NM_006445.4(PRPF8):c.3775-14del
NM_006445.4(PRPF8):c.434+18A>C rs72820383
NM_006445.4(PRPF8):c.434+18A>G rs72820383
NM_006445.4(PRPF8):c.4947-14C>T
NM_006445.4(PRPF8):c.5061C>T (p.Tyr1687=)
NM_006445.4(PRPF8):c.5392T>C (p.Leu1798=)
NM_006445.4(PRPF8):c.5808C>T (p.Leu1936=) rs760119460
NM_006445.4(PRPF8):c.603C>T (p.Ala201=) rs148215037
NM_006445.4(PRPF8):c.6854-4G>A rs75996323

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