ClinVar Miner

List of variants in gene PEX5 studied for not provided

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Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_001351132.2(PEX5):c.847-130C>G rs4883087 0.73342
NM_001351132.2(PEX5):c.966+216C>T rs2034502 0.73289
NM_001351132.2(PEX5):c.847-214G>A rs761554038 0.69166
NM_001351132.2(PEX5):c.847-219G>A rs772834207 0.69018
NM_001351132.2(PEX5):c.847-224G>A rs748010937 0.68525
NM_001351132.2(PEX5):c.847-203C>G rs200711659 0.68315
NM_001351132.2(PEX5):c.847-229G>A rs769359348 0.68108
NM_001351132.2(PEX5):c.847-250_847-248del rs1565707375 0.65417
NM_001351132.2(PEX5):c.847-234G>A rs879492173 0.60781
NM_001351132.2(PEX5):c.966+332G>A rs6486910 0.43819
NM_001351132.2(PEX5):c.846+283T>C rs12825629 0.43782
NM_001351132.2(PEX5):c.847-239G>A rs768548972 0.37940
NM_001351132.2(PEX5):c.847-246_847-238del rs1565707467 0.34244
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29645
NM_001351132.2(PEX5):c.847-246_847-233del rs1565707471 0.19906
NM_001351132.2(PEX5):c.*141G>A rs3813737 0.14722
NM_001351132.2(PEX5):c.847-246_847-243del rs1565707453 0.13216
NM_001351132.2(PEX5):c.847-238C>A rs80249562 0.12213
NM_001351132.2(PEX5):c.551+115dup rs1555177125 0.10563
NM_001351132.2(PEX5):c.-17+290T>A rs113752912 0.07875
NM_001351132.2(PEX5):c.846+27C>A rs61573078 0.07716
NM_001351132.2(PEX5):c.551+71C>T rs73050080 0.07647
NM_001351132.2(PEX5):c.847-206T>C rs879850304 0.07616
NM_001351132.2(PEX5):c.551+23G>A rs12303709 0.05996
NM_001351132.2(PEX5):c.1182-161T>C rs117123444 0.03027
NM_001351132.2(PEX5):c.-16-100G>A rs74926388 0.02786
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_001351132.2(PEX5):c.1111-84C>T rs111826229 0.02147
NM_001351132.2(PEX5):c.1560+63T>C rs112650810 0.01930
NM_001351132.2(PEX5):c.147+70_147+104del rs751943129 0.01750
NM_001351132.2(PEX5):c.1394+22G>A rs73051959 0.01709
NM_001351132.2(PEX5):c.1719-89C>T rs113646200 0.01594
NM_001351132.2(PEX5):c.*75G>A rs112966367 0.01593
NM_001351132.2(PEX5):c.1718+13A>G rs116873137 0.01093
NM_001351132.2(PEX5):c.*81A>C rs183460108 0.00529
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=) rs150761638 0.00221
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_001351132.2(PEX5):c.1567T>C (p.Leu523=) rs144165818 0.00158
NM_001351132.2(PEX5):c.471C>T (p.Ala157=) rs144331955 0.00108
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln) rs145690714 0.00070
NM_001351132.2(PEX5):c.1638C>T (p.Arg546=) rs142408719 0.00070
NM_001351132.2(PEX5):c.1872C>T (p.Asp624=) rs148914171 0.00053
NM_001351132.2(PEX5):c.1587C>T (p.Gly529=) rs144401814 0.00048
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_001351132.2(PEX5):c.552-7G>A rs189631769 0.00044
NM_001351132.2(PEX5):c.754-4G>A rs111286659 0.00039
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=) rs151312595 0.00035
NM_001351132.2(PEX5):c.371C>G (p.Ala124Gly) rs143307183 0.00035
NM_001351132.2(PEX5):c.590C>T (p.Thr197Met) rs144897942 0.00029
NM_001351132.2(PEX5):c.-5T>C rs371185376 0.00023
NM_001351132.2(PEX5):c.452C>G (p.Pro151Arg) rs200720523 0.00022
NM_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_001351132.2(PEX5):c.396T>C (p.Thr132=) rs370827246 0.00016
NM_001351132.2(PEX5):c.670G>A (p.Glu224Lys) rs767347186 0.00016
NM_001351132.2(PEX5):c.129A>G (p.Gly43=) rs932238098 0.00015
NM_001351132.2(PEX5):c.1395C>A (p.Asp465Glu) rs772561166 0.00014
NM_001351132.2(PEX5):c.1548C>T (p.Ser516=) rs143571888 0.00014
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001351132.2(PEX5):c.1897A>C (p.Thr633Pro) rs200471952 0.00013
NM_001351132.2(PEX5):c.753+10T>C rs373242881 0.00012
NM_001351132.2(PEX5):c.1439G>A (p.Arg480Gln) rs759523235 0.00011
NM_001351132.2(PEX5):c.1522G>A (p.Val508Met) rs138028549 0.00011
NM_001351132.2(PEX5):c.1647C>T (p.Leu549=) rs753512677 0.00011
NM_001351132.2(PEX5):c.258C>T (p.Asp86=) rs144351488 0.00011
NM_001351132.2(PEX5):c.496C>G (p.Gln166Glu) rs751043763 0.00011
NM_001351132.2(PEX5):c.680T>C (p.Val227Ala) rs777842778 0.00011
NM_001351132.2(PEX5):c.1549G>A (p.Val517Ile) rs201596535 0.00010
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=) rs138243167 0.00009
NM_001351132.2(PEX5):c.1636C>T (p.Arg546Cys) rs759334733 0.00009
NM_001351132.2(PEX5):c.610A>G (p.Lys204Glu) rs149289353 0.00009
NM_001351132.2(PEX5):c.659G>A (p.Arg220Gln) rs148417349 0.00008
NM_001351132.2(PEX5):c.687G>T (p.Leu229=) rs751973364 0.00008
NM_001351132.2(PEX5):c.1030C>T (p.Arg344Trp) rs145762725 0.00007
NM_001351132.2(PEX5):c.1848G>A (p.Gln616=) rs551068158 0.00006
NM_001351132.2(PEX5):c.195A>C (p.Glu65Asp) rs147730752 0.00006
NM_001351132.2(PEX5):c.230G>A (p.Arg77His) rs780957318 0.00006
NM_001351132.2(PEX5):c.421T>G (p.Ser141Ala) rs200475014 0.00006
NM_001351132.2(PEX5):c.831C>T (p.Ala277=) rs747216258 0.00006
NM_001351132.2(PEX5):c.966+3G>A rs373763823 0.00006
NM_001351132.2(PEX5):c.966+5G>A rs199705127 0.00005
NM_001351132.2(PEX5):c.147+59A>C rs183090244 0.00004
NM_001351132.2(PEX5):c.1823G>A (p.Arg608His) rs201158549 0.00004
NM_001351132.2(PEX5):c.543C>T (p.Thr181=) rs138205085 0.00004
NM_001351132.2(PEX5):c.1162G>T (p.Ala388Ser) rs1010839794 0.00003
NM_001351132.2(PEX5):c.1279C>T (p.Arg427Ter) rs61752137 0.00003
NM_001351132.2(PEX5):c.693C>T (p.Ser231=) rs140332077 0.00003
NM_001351132.2(PEX5):c.997C>T (p.Arg333Cys) rs756565648 0.00003
NM_001351132.2(PEX5):c.1111-4C>G rs376699778 0.00002
NM_001351132.2(PEX5):c.1211C>T (p.Thr404Ile) rs751774861 0.00002
NM_001351132.2(PEX5):c.591G>A (p.Thr197=) rs146024341 0.00002
NM_001351132.2(PEX5):c.1044G>T (p.Glu348Asp) rs746001175 0.00001
NM_001351132.2(PEX5):c.1078G>A (p.Ala360Thr) rs763965408 0.00001
NM_001351132.2(PEX5):c.1291C>T (p.Arg431Trp) rs765682048 0.00001
NM_001351132.2(PEX5):c.1292G>A (p.Arg431Gln) rs144901507 0.00001
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp) rs1281539463 0.00001
NM_001351132.2(PEX5):c.1822C>T (p.Arg608Cys) rs372635542 0.00001
NM_001351132.2(PEX5):c.34G>A (p.Gly12Arg) rs398123571 0.00001
NM_001351132.2(PEX5):c.547C>T (p.Arg183Cys) rs746104983 0.00001
NM_001351132.2(PEX5):c.663G>A (p.Gln221=) rs886043565 0.00001
NM_001351132.2(PEX5):c.78G>C (p.Gln26His) rs1940818656 0.00001
NM_001351132.2(PEX5):c.81C>T (p.Asp27=) rs398123572 0.00001
NM_001351132.2(PEX5):c.967-3dup rs777815209 0.00001
NM_001351132.2(PEX5):c.*10G>A rs368359968
NM_001351132.2(PEX5):c.1184G>T (p.Cys395Phe)
NM_001351132.2(PEX5):c.126dup (p.Gly43fs) rs777383921
NM_001351132.2(PEX5):c.1322C>T (p.Thr441Ile) rs777898843
NM_001351132.2(PEX5):c.135G>C (p.Pro45=) rs761885230
NM_001351132.2(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.147+148T>G
NM_001351132.2(PEX5):c.147+32_147+121del
NM_001351132.2(PEX5):c.147+33A>G rs1232409580
NM_001351132.2(PEX5):c.147+59_147+68del rs766900011
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.1560+3G>C rs1565720907
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA rs141721291
NM_001351132.2(PEX5):c.1578T>G (p.Asn526Lys) rs61752138
NM_001351132.2(PEX5):c.1653C>T (p.Leu551=) rs200215904
NM_001351132.2(PEX5):c.1718+5G>A rs1085307998
NM_001351132.2(PEX5):c.1768C>G (p.Arg590Gly) rs139347001
NM_001351132.2(PEX5):c.1799C>T (p.Ser600Leu) rs748956654
NM_001351132.2(PEX5):c.1803_1805delinsTC (p.Glu601fs) rs886041656
NM_001351132.2(PEX5):c.1838T>C (p.Met613Thr) rs1565724564
NM_001351132.2(PEX5):c.246C>T (p.Phe82=) rs1591647900
NM_001351132.2(PEX5):c.297C>A (p.Phe99Leu) rs573650362
NM_001351132.2(PEX5):c.361G>T (p.Glu121Ter) rs1565673352
NM_001351132.2(PEX5):c.418T>C (p.Trp140Arg)
NM_001351132.2(PEX5):c.430T>G (p.Phe144Val) rs1555173051
NM_001351132.2(PEX5):c.449-112G>A
NM_001351132.2(PEX5):c.449-2A>G rs1555176945
NM_001351132.2(PEX5):c.48G>A (p.Pro16=) rs147958315
NM_001351132.2(PEX5):c.533G>A (p.Gly178Glu) rs749729761
NM_001351132.2(PEX5):c.551+113_551+114dup rs5796268
NM_001351132.2(PEX5):c.551+114_551+115insTA rs1555177124
NM_001351132.2(PEX5):c.551+114_551+115insTTA rs1555177124
NM_001351132.2(PEX5):c.551+114dup rs5796268
NM_001351132.2(PEX5):c.551+134T>C rs1839623
NM_001351132.2(PEX5):c.551+296A>T rs188217734
NM_001351132.2(PEX5):c.551+298A>C rs4592497
NM_001351132.2(PEX5):c.551+8C>T rs775578165
NM_001351132.2(PEX5):c.552-10C>T
NM_001351132.2(PEX5):c.552-1G>A rs1064793563
NM_001351132.2(PEX5):c.565C>G (p.His189Asp) rs1382633525
NM_001351132.2(PEX5):c.596G>A (p.Ser199Asn) rs750906889
NM_001351132.2(PEX5):c.660G>A (p.Arg220=) rs541455903
NM_001351132.2(PEX5):c.669C>T (p.Gly223=)
NM_001351132.2(PEX5):c.753+92T>C
NM_001351132.2(PEX5):c.755G>A (p.Gly252Asp) rs1234343542
NM_001351132.2(PEX5):c.788G>A (p.Arg263Lys)
NM_001351132.2(PEX5):c.837A>G (p.Ser279=) rs2136159396
NM_001351132.2(PEX5):c.847-202_847-201insGA rs148612827
NM_001351132.2(PEX5):c.847-206_847-204del rs370328257
NM_001351132.2(PEX5):c.847-213C>A rs77861648
NM_001351132.2(PEX5):c.847-218C>A rs77819327
NM_001351132.2(PEX5):c.847-223C>A rs77546788
NM_001351132.2(PEX5):c.847-228C>A rs74503370
NM_001351132.2(PEX5):c.847-233C>A rs74462009
NM_001351132.2(PEX5):c.847-248C>G rs77071280
NM_001351132.2(PEX5):c.847-2A>G
NM_001351132.2(PEX5):c.901C>G (p.Arg301Gly) rs767306549
NM_001351132.2(PEX5):c.967-112C>A rs3825405
NM_001351132.2(PEX5):c.969G>T (p.Gly323=) rs201244651

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