ClinVar Miner

List of variants in gene PAX3 studied for not provided

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Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857 0.84982
NM_181458.4(PAX3):c.86-92A>C rs6754024 0.84980
NM_181458.4(PAX3):c.321+73T>C rs12694578 0.49809
NM_181458.4(PAX3):c.587-251A>G rs10932947 0.35456
NM_181458.4(PAX3):c.452-99G>T rs2303948 0.19931
NM_181458.4(PAX3):c.451+129C>A rs28546421 0.17718
NM_181458.4(PAX3):c.321+91G>T rs13405641 0.16691
NM_181458.4(PAX3):c.1174-10G>C rs2855268 0.11848
NM_181458.4(PAX3):c.1421-76C>T rs13014735 0.06793
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_181458.4(PAX3):c.322-117G>A rs45441600 0.01577
NM_181458.4(PAX3):c.321+258A>G rs45485396 0.01439
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092 0.01003
NM_181458.4(PAX3):c.86-99G>T rs45499698 0.00718
NM_181458.4(PAX3):c.879G>T (p.Gly293=) rs45522331 0.00653
NM_181458.4(PAX3):c.586+638C>A rs190583424 0.00542
NM_181458.4(PAX3):c.451+89C>T rs45498898 0.00496
NM_181458.4(PAX3):c.1174-287G>A rs45493391 0.00478
NM_181458.4(PAX3):c.586+86A>C rs28945093 0.00475
NM_181458.4(PAX3):c.586+745A>T rs77569906 0.00409
NM_181458.4(PAX3):c.451+211C>A rs45537932 0.00335
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 0.00287
NM_181458.4(PAX3):c.586+57A>G rs202175449 0.00175
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923 0.00170
NM_181458.4(PAX3):c.586+332G>A rs187795109 0.00119
NM_181458.4(PAX3):c.86-31T>A rs376941714 0.00111
NM_181458.4(PAX3):c.322-29C>T rs45477501 0.00082
NM_181458.4(PAX3):c.721A>T (p.Thr241Ser) rs529347506 0.00050
NM_181458.4(PAX3):c.321+10C>A rs140960868 0.00029
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393 0.00027
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052 0.00026
NM_181458.4(PAX3):c.540C>G (p.Ser180Arg) rs200679164 0.00020
NM_181458.4(PAX3):c.1197C>T (p.His399=) rs377508524 0.00016
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691 0.00016
NM_181458.4(PAX3):c.1421-17C>T rs200777940 0.00014
NM_181458.4(PAX3):c.567C>T (p.Asp189=) rs774455796 0.00012
NM_181458.4(PAX3):c.627T>G (p.Ser209=) rs142331431 0.00011
NM_181458.4(PAX3):c.382A>G (p.Met128Val) rs140921855 0.00010
NM_181458.4(PAX3):c.924G>A (p.Ser308=) rs199952493 0.00010
NM_181458.4(PAX3):c.484T>C (p.Phe162Leu) rs148977636 0.00009
NM_181458.4(PAX3):c.561C>G (p.Ser187Arg) rs375978379 0.00008
NM_181458.4(PAX3):c.1248C>T (p.Thr416=) rs376147620 0.00004
NM_181458.4(PAX3):c.322-20G>T rs753357130 0.00004
NM_181458.4(PAX3):c.874G>A (p.Gly292Arg) rs142651003 0.00004
NM_181458.4(PAX3):c.1420+14T>A rs768521579 0.00003
NM_181458.4(PAX3):c.1230C>T (p.Tyr410=) rs147111779 0.00002
NM_181458.4(PAX3):c.534G>A (p.Glu178=) rs569880951 0.00002
NM_181458.4(PAX3):c.572T>C (p.Ile191Thr) rs199560470 0.00002
NM_181458.4(PAX3):c.100G>T (p.Gly34Cys) rs777273543 0.00001
NM_181458.4(PAX3):c.150G>A (p.Pro50=) rs778990733 0.00001
NM_181458.4(PAX3):c.321+6C>A rs754445060 0.00001
NM_181458.4(PAX3):c.405C>T (p.Asp135=) rs778738002 0.00001
NM_181458.4(PAX3):c.424G>T (p.Val142Phe) rs1193030438 0.00001
NM_181458.4(PAX3):c.467G>T (p.Arg156Leu) rs768608755 0.00001
NM_181458.4(PAX3):c.510C>A (p.Ala170=) rs1322254660 0.00001
NM_181458.4(PAX3):c.564C>G (p.Ile188Met) rs759181003 0.00001
NM_181458.4(PAX3):c.586+5G>T rs755362476 0.00001
NM_181458.4(PAX3):c.683C>T (p.Ala228Val) rs775433032 0.00001
NM_181458.4(PAX3):c.707G>A (p.Arg236His) rs745673188 0.00001
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys) rs1228590199 0.00001
NM_181458.4(PAX3):c.854C>T (p.Ala285Val) rs762975677 0.00001
NC_000002.11:g.(?_223066643)_(223066929_?)del
NC_000002.11:g.(?_223066643)_(223086126_?)del
NC_000002.11:g.(?_223066643)_(223097022_?)del
NC_000002.11:g.(?_223084839)_(223097022_?)del
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala) rs587776586
NM_181458.4(PAX3):c.*108_*109dup rs3832105
NM_181458.4(PAX3):c.*109dup rs3832105
NM_181458.4(PAX3):c.*257G>C rs3731858
NM_181458.4(PAX3):c.*257G>T rs3731858
NM_181458.4(PAX3):c.*354GT[11] rs373626774
NM_181458.4(PAX3):c.103C>T (p.Gln35Ter)
NM_181458.4(PAX3):c.110G>A (p.Arg37His)
NM_181458.4(PAX3):c.116A>G (p.Asn39Ser)
NM_181458.4(PAX3):c.1174-10G>A rs2855268
NM_181458.4(PAX3):c.1174-18A>G
NM_181458.4(PAX3):c.1174-2A>G
NM_181458.4(PAX3):c.1181G>A (p.Gly394Glu) rs1349084587
NM_181458.4(PAX3):c.118C>A (p.Gln40Lys)
NM_181458.4(PAX3):c.118C>T (p.Gln40Ter) rs1461573611
NM_181458.4(PAX3):c.1195C>G (p.His399Asp) rs1553568937
NM_181458.4(PAX3):c.1208C>T (p.Pro403Leu)
NM_181458.4(PAX3):c.1213C>T (p.Gln405Ter)
NM_181458.4(PAX3):c.1231G>A (p.Ala411Thr)
NM_181458.4(PAX3):c.1232C>T (p.Ala411Val)
NM_181458.4(PAX3):c.1241dup (p.Leu415fs)
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181458.4(PAX3):c.1263_1265dup (p.Thr424_Val425insThr)
NM_181458.4(PAX3):c.127G>A (p.Gly43Ser)
NM_181458.4(PAX3):c.1291C>T (p.Gln431Ter)
NM_181458.4(PAX3):c.1338G>A (p.Gln446=) rs1574619364
NM_181458.4(PAX3):c.1342dup (p.Tyr448fs)
NM_181458.4(PAX3):c.1348C>G (p.Pro450Ala)
NM_181458.4(PAX3):c.1352C>A (p.Pro451His)
NM_181458.4(PAX3):c.136dup (p.Ile46fs) rs1553594009
NM_181458.4(PAX3):c.1375A>C (p.Ser459Arg)
NM_181458.4(PAX3):c.1378A>G (p.Met460Val)
NM_181458.4(PAX3):c.1386T>C (p.Pro462=)
NM_181458.4(PAX3):c.1399C>A (p.Gln467Lys) rs2106033653
NM_181458.4(PAX3):c.139A>G (p.Asn47Asp)
NM_181458.4(PAX3):c.141C>G (p.Asn47Lys) rs104893652
NM_181458.4(PAX3):c.1420+112dup rs368725878
NM_181458.4(PAX3):c.1420+126del rs368725878
NM_181458.4(PAX3):c.1420+55C>T rs186207055
NM_181458.4(PAX3):c.142G>A (p.Gly48Ser)
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_181458.4(PAX3):c.143G>T (p.Gly48Val)
NM_181458.4(PAX3):c.148C>A (p.Pro50Thr)
NM_181458.4(PAX3):c.163A>G (p.Ile55Val) rs1574771815
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu) rs267606931
NM_181458.4(PAX3):c.178G>A (p.Val60Met)
NM_181458.4(PAX3):c.179T>A (p.Val60Glu)
NM_181458.4(PAX3):c.184A>G (p.Met62Val) rs2106203978
NM_181458.4(PAX3):c.185T>A (p.Met62Lys) rs2106203964
NM_181458.4(PAX3):c.196G>A (p.Gly66Ser)
NM_181458.4(PAX3):c.202C>T (p.Arg68Trp) rs2106203892
NM_181458.4(PAX3):c.209G>A (p.Cys70Tyr)
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_181458.4(PAX3):c.218C>G (p.Ser73Trp)
NM_181458.4(PAX3):c.233T>A (p.Val78Glu) rs2106203794
NM_181458.4(PAX3):c.235T>G (p.Ser79Ala)
NM_181458.4(PAX3):c.238C>T (p.His80Tyr)
NM_181458.4(PAX3):c.241G>C (p.Gly81Arg) rs483353059
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys) rs483353059
NM_181458.4(PAX3):c.242G>A (p.Gly81Asp) rs587776586
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe) rs104893651
NM_181458.4(PAX3):c.253A>G (p.Lys85Glu)
NM_181458.4(PAX3):c.255G>C (p.Lys85Asn) rs2106203729
NM_181458.4(PAX3):c.262_271dup (p.Gln91fs)
NM_181458.4(PAX3):c.266G>C (p.Arg89Thr)
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter) rs1695336858
NM_181458.4(PAX3):c.280G>T (p.Gly94Cys)
NM_181458.4(PAX3):c.287T>C (p.Ile96Thr) rs1695336314
NM_181458.4(PAX3):c.290G>C (p.Arg97Pro) rs1695335992
NM_181458.4(PAX3):c.295_302del (p.Gly99fs)
NM_181458.4(PAX3):c.321+3G>A rs759085579
NM_181458.4(PAX3):c.321G>C (p.Lys107Asn)
NM_181458.4(PAX3):c.322-18C>T
NM_181458.4(PAX3):c.322-274T>A rs45437593
NM_181458.4(PAX3):c.322-2A>G
NM_181458.4(PAX3):c.346A>T (p.Lys116Ter)
NM_181458.4(PAX3):c.364A>G (p.Lys122Glu)
NM_181458.4(PAX3):c.429T>C (p.Cys143=) rs2106200288
NM_181458.4(PAX3):c.448T>C (p.Ser150Pro) rs1053406912
NM_181458.4(PAX3):c.450A>G (p.Ser150=)
NM_181458.4(PAX3):c.451+1G>A
NM_181458.4(PAX3):c.451+25C>G rs189139166
NM_181458.4(PAX3):c.452-235C>A rs13414716
NM_181458.4(PAX3):c.452-9C>A rs1379006499
NM_181458.4(PAX3):c.490A>T (p.Lys164Ter)
NM_181458.4(PAX3):c.492del (p.Gly165fs)
NM_181458.4(PAX3):c.498del (p.Glu167fs) rs2106196907
NM_181458.4(PAX3):c.503dup (p.Glu169fs) rs2106196885
NM_181458.4(PAX3):c.505G>A (p.Glu169Lys) rs878853019
NM_181458.4(PAX3):c.512_513insGGA (p.Ala170_Asp171insGlu) rs2106196853
NM_181458.4(PAX3):c.530C>G (p.Ala177Gly)
NM_181458.4(PAX3):c.544AAG[1] (p.Lys183del)
NM_181458.4(PAX3):c.547A>C (p.Lys183Gln)
NM_181458.4(PAX3):c.558_559del (p.His186fs) rs1559316535
NM_181458.4(PAX3):c.583C>T (p.Arg195Ter) rs1220219700
NM_181458.4(PAX3):c.586+233del rs10712898
NM_181458.4(PAX3):c.586+427G>T rs747070982
NM_181458.4(PAX3):c.586+52C>A rs201251689
NM_181458.4(PAX3):c.586+729del rs45466693
NM_181458.4(PAX3):c.586+96G>C rs192792747
NM_181458.4(PAX3):c.586G>A (p.Ala196Thr)
NM_181458.4(PAX3):c.587-8G>A
NM_181458.4(PAX3):c.587-9T>C
NM_181458.4(PAX3):c.588C>T (p.Ala196=)
NM_181458.4(PAX3):c.590C>G (p.Ser197Ter)
NM_181458.4(PAX3):c.598C>T (p.Gln200Ter)
NM_181458.4(PAX3):c.602C>G (p.Ser201Ter) rs1057524511
NM_181458.4(PAX3):c.614_615del (p.Gly204_Ser205insTer)
NM_181458.4(PAX3):c.619dup (p.Ile207fs) rs1574662128
NM_181458.4(PAX3):c.623A>G (p.Asp208Gly)
NM_181458.4(PAX3):c.642A>C (p.Pro214=)
NM_181458.4(PAX3):c.658C>A (p.Arg220Ser) rs917104474
NM_181458.4(PAX3):c.659G>A (p.Arg220His)
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
NM_181458.4(PAX3):c.668G>A (p.Arg223Gln) rs876657717
NM_181458.4(PAX3):c.668G>T (p.Arg223Leu)
NM_181458.4(PAX3):c.694G>C (p.Glu232Gln)
NM_181458.4(PAX3):c.715G>T (p.Glu239Ter) rs1692621563
NM_181458.4(PAX3):c.719G>C (p.Arg240Thr)
NM_181458.4(PAX3):c.723T>G (p.Thr241=)
NM_181458.4(PAX3):c.730C>T (p.Pro244Ser) rs1553575183
NM_181458.4(PAX3):c.731C>A (p.Pro244His) rs777246206
NM_181458.4(PAX3):c.756G>A (p.Leu252=)
NM_181458.4(PAX3):c.784C>T (p.Arg262Ter) rs886041319
NM_181458.4(PAX3):c.792+1G>A
NM_181458.4(PAX3):c.792+88C>G rs1965791
NM_181458.4(PAX3):c.793-16T>G
NM_181458.4(PAX3):c.793-1G>A
NM_181458.4(PAX3):c.793-20A>T
NM_181458.4(PAX3):c.793G>T (p.Val265Phe)
NM_181458.4(PAX3):c.797G>A (p.Trp266Ter)
NM_181458.4(PAX3):c.804del (p.Ser268fs)
NM_181458.4(PAX3):c.811C>T (p.Arg271Cys) rs1380858784
NM_181458.4(PAX3):c.812G>A (p.Arg271His) rs774528745
NM_181458.4(PAX3):c.821G>A (p.Trp274Ter) rs1559264524
NM_181458.4(PAX3):c.835G>A (p.Gly279Arg) rs1064796626
NM_181458.4(PAX3):c.86-2A>G rs1553594069
NM_181458.4(PAX3):c.86-342G>A rs45555633
NM_181458.4(PAX3):c.871C>T (p.Pro291Ser) rs199651907
NM_181458.4(PAX3):c.873dup (p.Gly292fs) rs1553572976
NM_181458.4(PAX3):c.879G>A (p.Gly293=) rs45522331
NM_181458.4(PAX3):c.879del (p.Phe294fs) rs1553572967
NM_181458.4(PAX3):c.879dup (p.Phe294fs) rs1553572967
NM_181458.4(PAX3):c.900G>A (p.Pro300=)
NM_181458.4(PAX3):c.91A>C (p.Thr31Pro)
NM_181458.4(PAX3):c.936C>G (p.Tyr312Ter)
NM_181458.4(PAX3):c.937C>T (p.Gln313Ter)
NM_181458.4(PAX3):c.942C>T (p.Pro314=)
NM_181458.4(PAX3):c.955C>T (p.Gln319Ter) rs2106074168

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