ClinVar Miner

List of variants in gene NBEAL2

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 500
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.1197+115G>A rs936185 0.97385
NM_015175.3(NBEAL2):c.2473+53_2473+54insA rs11396344 0.94867
NM_015175.3(NBEAL2):c.556+154C>G rs4282092 0.94837
NM_015175.3(NBEAL2):c.5302-13A>T rs11928558 0.94785
NM_015175.3(NBEAL2):c.4305+267A>G rs34344887 0.55254
NM_015175.3(NBEAL2):c.6560+31G>C rs2305638 0.55153
NM_015175.3(NBEAL2):c.4911C>T (p.Ser1637=) rs2305634 0.48105
NM_015175.3(NBEAL2):c.1033-28C>T rs13066214 0.48036
NM_015175.3(NBEAL2):c.7135-104T>G rs56217494 0.34787
NM_015175.3(NBEAL2):c.4995G>A (p.Val1665=) rs2305635 0.34360
NM_015175.3(NBEAL2):c.1198-45C>T rs749512 0.32111
NM_015175.3(NBEAL2):c.6801+21A>C rs13081418 0.24157
NM_015175.3(NBEAL2):c.4783-24C>T rs73075647 0.17209
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe) rs2305637 0.13655
NM_015175.3(NBEAL2):c.*179C>A rs111271184 0.06795
NM_015175.3(NBEAL2):c.1353G>A (p.Pro451=) rs115611407 0.06231
NM_015175.3(NBEAL2):c.*216A>G rs2305640 0.04972
NM_015175.3(NBEAL2):c.6919+9T>C rs3816531 0.04927
NM_015175.3(NBEAL2):c.6801+36G>A rs35201996 0.04502
NM_015175.3(NBEAL2):c.1340G>A (p.Arg447His) rs17079425 0.03601
NM_015175.3(NBEAL2):c.7507+6A>G rs74418680 0.02879
NM_015175.3(NBEAL2):c.4484+44G>A rs2305632 0.02875
NM_015175.3(NBEAL2):c.7335-44T>C rs74447560 0.02793
NM_015175.3(NBEAL2):c.4704C>T (p.Asn1568=) rs12489851 0.02789
NM_015175.3(NBEAL2):c.2445G>A (p.Ala815=) rs116456978 0.01945
NM_015175.3(NBEAL2):c.*219A>C rs1048808 0.01517
NM_015175.3(NBEAL2):c.5661A>C (p.Pro1887=) rs140548682 0.01370
NM_015175.3(NBEAL2):c.1380G>A (p.Pro460=) rs114363730 0.00928
NM_015175.3(NBEAL2):c.6318C>T (p.Tyr2106=) rs141569354 0.00844
NM_015175.3(NBEAL2):c.4257G>A (p.Pro1419=) rs116791394 0.00742
NM_015175.3(NBEAL2):c.7836G>A (p.Gln2612=) rs72909849 0.00728
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454 0.00554
NM_015175.3(NBEAL2):c.3036C>T (p.Ser1012=) rs139218926 0.00414
NM_015175.3(NBEAL2):c.2196G>A (p.Thr732=) rs201880318 0.00393
NM_015175.3(NBEAL2):c.4306-4A>G rs201229761 0.00393
NM_015175.3(NBEAL2):c.4485-8C>T rs145760682 0.00350
NM_015175.3(NBEAL2):c.123C>G (p.Ser41=) rs61734084 0.00344
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr) rs116104760 0.00338
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) rs181413143 0.00289
NM_015175.3(NBEAL2):c.5301+11C>T rs201354947 0.00274
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643 0.00260
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=) rs200489667 0.00251
NM_015175.3(NBEAL2):c.*333G>A rs538183501 0.00200
NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg) rs201641746 0.00197
NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=) rs201015016 0.00196
NM_015175.3(NBEAL2):c.5600C>T (p.Thr1867Ile) rs187699322 0.00172
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_015175.3(NBEAL2):c.3384+5G>A rs370559049 0.00156
NM_015175.3(NBEAL2):c.1634C>T (p.Ser545Leu) rs201749187 0.00151
NM_015175.3(NBEAL2):c.*267G>C rs769202844 0.00147
NM_015175.3(NBEAL2):c.6624C>T (p.Ser2208=) rs200186016 0.00143
NM_015175.3(NBEAL2):c.7755A>C (p.Gly2585=) rs186292946 0.00143
NM_015175.3(NBEAL2):c.4185G>A (p.Pro1395=) rs115350407 0.00139
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400 0.00133
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00130
NM_015175.3(NBEAL2):c.384C>G (p.Gly128=) rs113523265 0.00121
NM_015175.3(NBEAL2):c.7602+10G>A rs201513299 0.00118
NM_015175.3(NBEAL2):c.872G>A (p.Gly291Asp) rs200121105 0.00118
NM_015175.3(NBEAL2):c.5664C>T (p.Pro1888=) rs375399942 0.00108
NM_015175.3(NBEAL2):c.1600C>T (p.Arg534Cys) rs202209383 0.00102
NM_015175.3(NBEAL2):c.6023C>T (p.Thr2008Met) rs201015564 0.00102
NM_015175.3(NBEAL2):c.6267C>G (p.Thr2089=) rs111945488 0.00097
NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His) rs200622688 0.00088
NM_015175.3(NBEAL2):c.1752G>A (p.Thr584=) rs201359870 0.00081
NM_015175.3(NBEAL2):c.7589G>A (p.Arg2530Gln) rs116247493 0.00075
NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=) rs369906164 0.00073
NM_015175.3(NBEAL2):c.187C>T (p.Leu63=) rs80105480 0.00066
NM_015175.3(NBEAL2):c.467G>A (p.Arg156His) rs199797249 0.00065
NM_015175.3(NBEAL2):c.2375G>A (p.Arg792Gln) rs140354422 0.00061
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=) rs187781607 0.00061
NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile) rs146270553 0.00056
NM_015175.3(NBEAL2):c.1635G>A (p.Ser545=) rs371768924 0.00053
NM_015175.3(NBEAL2):c.1878C>A (p.Leu626=) rs199533501 0.00053
NM_015175.3(NBEAL2):c.5460-13G>T rs372705263 0.00053
NM_015175.3(NBEAL2):c.1392C>T (p.Thr464=) rs373760839 0.00048
NM_015175.3(NBEAL2):c.5769G>A (p.Ser1923=) rs200100160 0.00045
NM_015175.3(NBEAL2):c.1482G>C (p.Leu494=) rs377485621 0.00043
NM_015175.3(NBEAL2):c.3387G>A (p.Ala1129=) rs371065166 0.00038
NM_015175.3(NBEAL2):c.5277C>T (p.Arg1759=) rs370969690 0.00032
NM_015175.3(NBEAL2):c.2557-5C>G rs760228884 0.00031
NM_015175.3(NBEAL2):c.7602+12G>A rs374154267 0.00031
NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala) rs200666191 0.00030
NM_015175.3(NBEAL2):c.5980G>A (p.Asp1994Asn) rs200060366 0.00028
NM_015175.3(NBEAL2):c.*155C>A rs886058609 0.00026
NM_015175.3(NBEAL2):c.1351C>G (p.Pro451Ala) rs368375664 0.00024
NM_015175.3(NBEAL2):c.5356A>T (p.Thr1786Ser) rs373627201 0.00024
NM_015175.3(NBEAL2):c.544G>A (p.Ala182Thr) rs745890949 0.00022
NM_015175.3(NBEAL2):c.2487G>A (p.Thr829=) rs370670784 0.00021
NM_015175.3(NBEAL2):c.2505G>A (p.Glu835=) rs202204936 0.00021
NM_015175.3(NBEAL2):c.6736G>A (p.Asp2246Asn) rs372963074 0.00021
NM_015175.3(NBEAL2):c.1618C>T (p.Arg540Trp) rs201777850 0.00020
NM_015175.3(NBEAL2):c.5688C>T (p.Leu1896=) rs201985571 0.00020
NM_015175.3(NBEAL2):c.5864G>A (p.Arg1955His) rs372422378 0.00020
NM_015175.3(NBEAL2):c.6375C>T (p.Pro2125=) rs372864119 0.00020
NM_015175.3(NBEAL2):c.4367G>A (p.Arg1456His) rs117340996 0.00019
NM_015175.3(NBEAL2):c.5335C>T (p.Arg1779Cys) rs199944912 0.00019
NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala) rs200641534 0.00019
NM_015175.3(NBEAL2):c.3373G>A (p.Asp1125Asn) rs373444282 0.00017
NM_015175.3(NBEAL2):c.6880G>A (p.Glu2294Lys) rs201342229 0.00017
NM_015175.3(NBEAL2):c.1613G>A (p.Arg538His) rs368310677 0.00016
NM_015175.3(NBEAL2):c.5459+8G>A rs747932446 0.00014
NM_015175.3(NBEAL2):c.597G>A (p.Leu199=) rs199694703 0.00014
NM_015175.3(NBEAL2):c.6351C>T (p.Ala2117=) rs374999762 0.00014
NM_015175.3(NBEAL2):c.2532G>A (p.Arg844=) rs759157034 0.00013
NM_015175.3(NBEAL2):c.3308G>A (p.Arg1103Gln) rs374012992 0.00013
NM_015175.3(NBEAL2):c.3252C>T (p.Asp1084=) rs369409195 0.00012
NM_015175.3(NBEAL2):c.2062C>T (p.Arg688Cys) rs201210287 0.00011
NM_015175.3(NBEAL2):c.2195C>T (p.Thr732Met) rs376623029 0.00011
NM_015175.3(NBEAL2):c.3135G>A (p.Met1045Ile) rs373596976 0.00010
NM_015175.3(NBEAL2):c.4211G>A (p.Arg1404His) rs202066156 0.00010
NM_015175.3(NBEAL2):c.4246G>A (p.Gly1416Ser) rs781701383 0.00010
NM_015175.3(NBEAL2):c.5381C>T (p.Thr1794Met) rs146899838 0.00010
NM_015175.3(NBEAL2):c.6228C>T (p.Phe2076=) rs377441319 0.00010
NM_015175.3(NBEAL2):c.7280G>A (p.Arg2427His) rs199764240 0.00010
NM_015175.3(NBEAL2):c.8096G>A (p.Arg2699His) rs376357238 0.00010
NM_015175.3(NBEAL2):c.*244C>G rs886058610 0.00009
NM_015175.3(NBEAL2):c.1053G>A (p.Ala351=) rs185057557 0.00009
NM_015175.3(NBEAL2):c.1871G>A (p.Arg624Gln) rs374527787 0.00009
NM_015175.3(NBEAL2):c.3291G>A (p.Ala1097=) rs369931526 0.00009
NM_015175.3(NBEAL2):c.4126A>G (p.Ser1376Gly) rs369363563 0.00009
NM_015175.3(NBEAL2):c.4245C>T (p.Asp1415=) rs371129706 0.00009
NM_015175.3(NBEAL2):c.6157C>T (p.Arg2053Cys) rs768389780 0.00009
NM_015175.3(NBEAL2):c.7135-13C>T rs767606190 0.00009
NM_015175.3(NBEAL2):c.690G>C (p.Leu230=) rs181297174 0.00008
NM_015175.3(NBEAL2):c.*263C>T rs886058611 0.00007
NM_015175.3(NBEAL2):c.1764G>A (p.Ala588=) rs776191203 0.00007
NM_015175.3(NBEAL2):c.4669C>G (p.Leu1557Val) rs534419583 0.00007
NM_015175.3(NBEAL2):c.4846G>A (p.Glu1616Lys) rs779806471 0.00007
NM_015175.3(NBEAL2):c.7248G>A (p.Leu2416=) rs749025670 0.00007
NM_015175.3(NBEAL2):c.1102G>A (p.Asp368Asn) rs528681375 0.00006
NM_015175.3(NBEAL2):c.1134C>T (p.Asp378=) rs367672629 0.00006
NM_015175.3(NBEAL2):c.4978C>T (p.Arg1660Cys) rs142355538 0.00006
NM_015175.3(NBEAL2):c.7453C>T (p.Arg2485Trp) rs748364740 0.00006
NM_015175.3(NBEAL2):c.4122C>T (p.Gly1374=) rs759172927 0.00005
NM_015175.3(NBEAL2):c.5082C>T (p.Ser1694=) rs753011888 0.00005
NM_015175.3(NBEAL2):c.6173T>C (p.Met2058Thr) rs775803831 0.00005
NM_015175.3(NBEAL2):c.6212G>A (p.Arg2071His) rs200204458 0.00005
NM_015175.3(NBEAL2):c.6723C>T (p.Asn2241=) rs563986757 0.00005
NM_015175.3(NBEAL2):c.7922G>A (p.Arg2641Gln) rs765996332 0.00005
NM_015175.3(NBEAL2):c.1212G>A (p.Glu404=) rs769130047 0.00004
NM_015175.3(NBEAL2):c.1976G>A (p.Arg659Gln) rs567205565 0.00004
NM_015175.3(NBEAL2):c.3210C>T (p.Arg1070=) rs763972746 0.00004
NM_015175.3(NBEAL2):c.4000C>G (p.Pro1334Ala) rs564781036 0.00004
NM_015175.3(NBEAL2):c.4169C>T (p.Ser1390Leu) rs569206224 0.00004
NM_015175.3(NBEAL2):c.5866G>A (p.Val1956Met) rs373495718 0.00004
NM_015175.3(NBEAL2):c.6178C>T (p.Arg2060Cys) rs547933637 0.00004
NM_015175.3(NBEAL2):c.6993G>A (p.Gly2331=) rs758526014 0.00004
NM_015175.3(NBEAL2):c.7407G>A (p.Pro2469=) rs568006584 0.00004
NM_015175.3(NBEAL2):c.1762G>A (p.Ala588Thr) rs766113174 0.00003
NM_015175.3(NBEAL2):c.2066G>A (p.Arg689Gln) rs776893573 0.00003
NM_015175.3(NBEAL2):c.2556+12C>A rs771441339 0.00003
NM_015175.3(NBEAL2):c.277G>A (p.Glu93Lys) rs750925242 0.00003
NM_015175.3(NBEAL2):c.3184G>A (p.Val1062Ile) rs775313250 0.00003
NM_015175.3(NBEAL2):c.4123G>A (p.Gly1375Ser) rs771754714 0.00003
NM_015175.3(NBEAL2):c.4361C>T (p.Thr1454Met) rs371607035 0.00003
NM_015175.3(NBEAL2):c.4676G>A (p.Arg1559His) rs560621411 0.00003
NM_015175.3(NBEAL2):c.4789G>A (p.Ala1597Thr) rs147659992 0.00003
NM_015175.3(NBEAL2):c.4979G>A (p.Arg1660His) rs756124320 0.00003
NM_015175.3(NBEAL2):c.5900G>A (p.Arg1967Gln) rs374748722 0.00003
NM_015175.3(NBEAL2):c.6258G>A (p.Ala2086=) rs371080261 0.00003
NM_015175.3(NBEAL2):c.7602+9C>T rs758985099 0.00003
NM_015175.3(NBEAL2):c.*225G>T rs929264011 0.00002
NM_015175.3(NBEAL2):c.*375T>G rs1054994315 0.00002
NM_015175.3(NBEAL2):c.1344C>T (p.Asn448=) rs763174968 0.00002
NM_015175.3(NBEAL2):c.165C>T (p.Val55=) rs771661814 0.00002
NM_015175.3(NBEAL2):c.1687C>T (p.Arg563Cys) rs527658542 0.00002
NM_015175.3(NBEAL2):c.1736G>A (p.Arg579His) rs768701328 0.00002
NM_015175.3(NBEAL2):c.2231C>T (p.Pro744Leu) rs375744996 0.00002
NM_015175.3(NBEAL2):c.2940C>T (p.Ile980=) rs748390322 0.00002
NM_015175.3(NBEAL2):c.3087C>T (p.Leu1029=) rs373998295 0.00002
NM_015175.3(NBEAL2):c.3108C>T (p.Ala1036=) rs886058596 0.00002
NM_015175.3(NBEAL2):c.3529G>A (p.Asp1177Asn) rs746255435 0.00002
NM_015175.3(NBEAL2):c.4532C>T (p.Ala1511Val) rs886058600 0.00002
NM_015175.3(NBEAL2):c.6409G>A (p.Val2137Met) rs377051387 0.00002
NM_015175.3(NBEAL2):c.6631G>A (p.Asp2211Asn) rs781499875 0.00002
NM_015175.3(NBEAL2):c.6919+4G>T rs769183186 0.00002
NM_015175.3(NBEAL2):c.*65A>G rs538014431 0.00001
NM_015175.3(NBEAL2):c.1114-9C>T rs375381261 0.00001
NM_015175.3(NBEAL2):c.1156A>G (p.Arg386Gly) rs187629020 0.00001
NM_015175.3(NBEAL2):c.1367C>T (p.Ala456Val) rs756484174 0.00001
NM_015175.3(NBEAL2):c.1393G>A (p.Ala465Thr) rs746838327 0.00001
NM_015175.3(NBEAL2):c.168G>A (p.Pro56=) rs188470343 0.00001
NM_015175.3(NBEAL2):c.1728T>G (p.Arg576=) rs772273759 0.00001
NM_015175.3(NBEAL2):c.1860del (p.Ala621fs) rs1235183015 0.00001
NM_015175.3(NBEAL2):c.1899-6C>T rs775271035 0.00001
NM_015175.3(NBEAL2):c.1975C>T (p.Arg659Trp) rs555487179 0.00001
NM_015175.3(NBEAL2):c.2473+7A>G rs886058595 0.00001
NM_015175.3(NBEAL2):c.2486C>T (p.Thr829Met) rs577957158 0.00001
NM_015175.3(NBEAL2):c.2887G>T (p.Gly963Cys) rs368638331 0.00001
NM_015175.3(NBEAL2):c.2958+3G>A rs901826862 0.00001
NM_015175.3(NBEAL2):c.3058T>C (p.Tyr1020His) rs1362658024 0.00001
NM_015175.3(NBEAL2):c.3119-6G>A rs771952228 0.00001
NM_015175.3(NBEAL2):c.3544-16G>A rs757281502 0.00001
NM_015175.3(NBEAL2):c.3607C>T (p.Arg1203Trp) rs769438781 0.00001
NM_015175.3(NBEAL2):c.3769C>T (p.Arg1257Cys) rs746827784 0.00001
NM_015175.3(NBEAL2):c.3789+4A>C rs768165695 0.00001
NM_015175.3(NBEAL2):c.379C>T (p.Arg127Ter) rs1283560494 0.00001
NM_015175.3(NBEAL2):c.406C>T (p.Leu136=) rs772350824 0.00001
NM_015175.3(NBEAL2):c.4459C>T (p.Arg1487Cys) rs763635071 0.00001
NM_015175.3(NBEAL2):c.4485-1G>T rs763842878 0.00001
NM_015175.3(NBEAL2):c.5202C>T (p.His1734=) rs761277099 0.00001
NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys) rs1341020147 0.00001
NM_015175.3(NBEAL2):c.6145T>C (p.Tyr2049His) rs886058601 0.00001
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630 0.00001
NM_015175.3(NBEAL2):c.6806C>T (p.Ser2269Leu) rs749896920 0.00001
NM_015175.3(NBEAL2):c.7134G>A (p.Glu2378=) rs1320380958 0.00001
NM_015175.3(NBEAL2):c.7442A>G (p.Asp2481Gly) rs886043642 0.00001
NM_015175.3(NBEAL2):c.7736T>C (p.Ile2579Thr) rs778429939 0.00001
NM_015175.3(NBEAL2):c.907C>G (p.Leu303Val) rs886058593 0.00001
NM_015175.2(NBEAL2):c.6920delG rs948953674
NM_015175.3(NBEAL2):c.*104del rs397708574
NM_015175.3(NBEAL2):c.*151dup rs886058608
NM_015175.3(NBEAL2):c.*246T>C rs1575635919
NM_015175.3(NBEAL2):c.*37C>G rs886058607
NM_015175.3(NBEAL2):c.1049G>A (p.Arg350Gln)
NM_015175.3(NBEAL2):c.1052C>T (p.Ala351Val)
NM_015175.3(NBEAL2):c.1081A>G (p.Thr361Ala) rs769842468
NM_015175.3(NBEAL2):c.1084C>T (p.Arg362Trp)
NM_015175.3(NBEAL2):c.1108C>G (p.Gln370Glu)
NM_015175.3(NBEAL2):c.1113+1G>A rs778587914
NM_015175.3(NBEAL2):c.1122C>G (p.Asp374Glu)
NM_015175.3(NBEAL2):c.1147C>A (p.His383Asn)
NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro) rs387907113
NM_015175.3(NBEAL2):c.1198-210T>G rs749511
NM_015175.3(NBEAL2):c.1271G>A (p.Arg424Gln) rs768145657
NM_015175.3(NBEAL2):c.1339C>T (p.Arg447Cys)
NM_015175.3(NBEAL2):c.1360G>A (p.Val454Met)
NM_015175.3(NBEAL2):c.1370A>G (p.Gln457Arg)
NM_015175.3(NBEAL2):c.1376del (p.Leu459fs) rs2107337553
NM_015175.3(NBEAL2):c.140+6G>T
NM_015175.3(NBEAL2):c.1416G>A (p.Ala472=)
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs) rs781366964
NM_015175.3(NBEAL2):c.148G>A (p.Glu50Lys)
NM_015175.3(NBEAL2):c.1495T>C (p.Leu499=)
NM_015175.3(NBEAL2):c.1531C>G (p.Arg511Gly) rs11720139
NM_015175.3(NBEAL2):c.1532G>C (p.Arg511Pro) rs770721155
NM_015175.3(NBEAL2):c.1574G>A (p.Arg525His)
NM_015175.3(NBEAL2):c.1625G>A (p.Gly542Glu)
NM_015175.3(NBEAL2):c.1663G>A (p.Ala555Thr)
NM_015175.3(NBEAL2):c.1688G>A (p.Arg563His)
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs) rs2036418481
NM_015175.3(NBEAL2):c.1751C>T (p.Thr584Met)
NM_015175.3(NBEAL2):c.1760T>C (p.Met587Thr)
NM_015175.3(NBEAL2):c.1783G>A (p.Val595Ile)
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter) rs1172581672
NM_015175.3(NBEAL2):c.1790G>A (p.Arg597Gln)
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter) rs1553659758
NM_015175.3(NBEAL2):c.1823G>A (p.Trp608Ter) rs794726682
NM_015175.3(NBEAL2):c.1907C>T (p.Thr636Ile) rs564164512
NM_015175.3(NBEAL2):c.1928A>T (p.Glu643Val) rs387907114
NM_015175.3(NBEAL2):c.1933TTC[1] (p.Phe646del) rs1203437621
NM_015175.3(NBEAL2):c.1973C>G (p.Thr658Arg)
NM_015175.3(NBEAL2):c.1985A>G (p.Tyr662Cys) rs1171833737
NM_015175.3(NBEAL2):c.201C>G (p.Ala67=)
NM_015175.3(NBEAL2):c.2024C>T (p.Ser675Phe)
NM_015175.3(NBEAL2):c.2044A>T (p.Ile682Phe) rs773164015
NM_015175.3(NBEAL2):c.2047G>A (p.Val683Ile)
NM_015175.3(NBEAL2):c.2090A>G (p.His697Arg)
NM_015175.3(NBEAL2):c.2103C>T (p.Asp701=) rs377025153
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp) rs2107346255
NM_015175.3(NBEAL2):c.2189G>A (p.Arg730His)
NM_015175.3(NBEAL2):c.2207C>A (p.Thr736Lys)
NM_015175.3(NBEAL2):c.2219C>A (p.Thr740Lys) rs886058594
NM_015175.3(NBEAL2):c.2257G>A (p.Ala753Thr)
NM_015175.3(NBEAL2):c.2401G>A (p.Gly801Ser)
NM_015175.3(NBEAL2):c.2440C>G (p.Gln814Glu)
NM_015175.3(NBEAL2):c.2480A>G (p.Asn827Ser)
NM_015175.3(NBEAL2):c.250del (p.Leu84fs) rs2035871619
NM_015175.3(NBEAL2):c.2537T>C (p.Leu846Pro) rs1575602690
NM_015175.3(NBEAL2):c.2552C>T (p.Pro851Leu) rs1320075072
NM_015175.3(NBEAL2):c.2650-1G>A rs2036570687
NM_015175.3(NBEAL2):c.2686C>A (p.Leu896Met) rs371538211
NM_015175.3(NBEAL2):c.2700G>A (p.Glu900=)
NM_015175.3(NBEAL2):c.2701C>T (p.Arg901Ter) rs387907112
NM_015175.3(NBEAL2):c.2738C>T (p.Pro913Leu)
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter) rs2036579205
NM_015175.3(NBEAL2):c.2779G>A (p.Gly927Ser)
NM_015175.3(NBEAL2):c.277G>C (p.Glu93Gln)
NM_015175.3(NBEAL2):c.2787C>A (p.Asn929Lys)
NM_015175.3(NBEAL2):c.2789C>T (p.Thr930Ile)
NM_015175.3(NBEAL2):c.2843A>G (p.Asn948Ser)
NM_015175.3(NBEAL2):c.2855C>G (p.Ala952Gly)
NM_015175.3(NBEAL2):c.2929C>T (p.Pro977Ser)
NM_015175.3(NBEAL2):c.2953C>G (p.Arg985Gly)
NM_015175.3(NBEAL2):c.2954G>A (p.Arg985Gln)
NM_015175.3(NBEAL2):c.2986G>A (p.Val996Met)
NM_015175.3(NBEAL2):c.299G>A (p.Gly100Asp)
NM_015175.3(NBEAL2):c.3091A>G (p.Thr1031Ala)
NM_015175.3(NBEAL2):c.3106G>A (p.Ala1036Thr) rs769080091
NM_015175.3(NBEAL2):c.3118+2T>G rs1349443190
NM_015175.3(NBEAL2):c.3119-7C>T
NM_015175.3(NBEAL2):c.3158G>T (p.Arg1053Ile)
NM_015175.3(NBEAL2):c.3170G>C (p.Arg1057Pro) rs371048264
NM_015175.3(NBEAL2):c.3253G>A (p.Asp1085Asn) rs772177163
NM_015175.3(NBEAL2):c.3263C>T (p.Thr1088Ile)
NM_015175.3(NBEAL2):c.3297G>C (p.Glu1099Asp)
NM_015175.3(NBEAL2):c.3327C>T (p.Asp1109=) rs143491739
NM_015175.3(NBEAL2):c.3379G>A (p.Gly1127Ser)
NM_015175.3(NBEAL2):c.3388G>A (p.Val1130Met)
NM_015175.3(NBEAL2):c.339G>C (p.Lys113Asn)
NM_015175.3(NBEAL2):c.3414C>T (p.Ala1138=) rs886058597
NM_015175.3(NBEAL2):c.3443C>A (p.Ser1148Tyr)
NM_015175.3(NBEAL2):c.3502C>T (p.Arg1168Trp)
NM_015175.3(NBEAL2):c.3544-20C>A rs1057523382
NM_015175.3(NBEAL2):c.3546C>G (p.Ile1182Met)
NM_015175.3(NBEAL2):c.3550C>A (p.Arg1184Ser)
NM_015175.3(NBEAL2):c.3583C>T (p.Arg1195Trp)
NM_015175.3(NBEAL2):c.3584G>A (p.Arg1195Gln)
NM_015175.3(NBEAL2):c.3592C>T (p.Gln1198Ter) rs886041677
NM_015175.3(NBEAL2):c.3601C>T (p.Arg1201Trp)
NM_015175.3(NBEAL2):c.3649G>T (p.Gly1217Trp)
NM_015175.3(NBEAL2):c.368C>G (p.Pro123Arg) rs371460227
NM_015175.3(NBEAL2):c.3693C>G (p.Phe1231Leu)
NM_015175.3(NBEAL2):c.3704-4C>A
NM_015175.3(NBEAL2):c.371C>T (p.Pro124Leu)
NM_015175.3(NBEAL2):c.3728T>C (p.Leu1243Pro) rs753466927
NM_015175.3(NBEAL2):c.3766G>A (p.Val1256Ile)
NM_015175.3(NBEAL2):c.3773_3774insCAGCGTTCGCCTC (p.Asp1259fs)
NM_015175.3(NBEAL2):c.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg) rs2036808727
NM_015175.3(NBEAL2):c.3869G>A (p.Arg1290Gln)
NM_015175.3(NBEAL2):c.387G>A (p.Thr129=)
NM_015175.3(NBEAL2):c.3903C>A (p.Ser1301Arg)
NM_015175.3(NBEAL2):c.3907C>A (p.Pro1303Thr)
NM_015175.3(NBEAL2):c.3920del (p.Pro1307fs)
NM_015175.3(NBEAL2):c.402G>A (p.Val134=)
NM_015175.3(NBEAL2):c.4047C>A (p.Leu1349=)
NM_015175.3(NBEAL2):c.4073T>C (p.Leu1358Pro)
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter) rs1553663498
NM_015175.3(NBEAL2):c.4085G>A (p.Arg1362Gln) rs781185845
NM_015175.3(NBEAL2):c.4117G>C (p.Gly1373Arg)
NM_015175.3(NBEAL2):c.4121G>A (p.Gly1374Asp) rs886058598
NM_015175.3(NBEAL2):c.415C>T (p.Leu139=)
NM_015175.3(NBEAL2):c.4188G>A (p.Arg1396=)
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys) rs1001207491
NM_015175.3(NBEAL2):c.4306-15C>G rs886058599
NM_015175.3(NBEAL2):c.4355C>T (p.Ser1452Leu)
NM_015175.3(NBEAL2):c.4362G>A (p.Thr1454=)
NM_015175.3(NBEAL2):c.4366C>T (p.Arg1456Cys)
NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs)
NM_015175.3(NBEAL2):c.4372G>A (p.Val1458Met)
NM_015175.3(NBEAL2):c.4399C>T (p.Arg1467Trp)
NM_015175.3(NBEAL2):c.440A>G (p.Asp147Gly) rs886058591
NM_015175.3(NBEAL2):c.441C>T (p.Asp147=) rs2035909011
NM_015175.3(NBEAL2):c.4425G>C (p.Val1475=)
NM_015175.3(NBEAL2):c.4526A>G (p.Lys1509Arg) rs2036970287
NM_015175.3(NBEAL2):c.4637G>A (p.Ser1546Asn)
NM_015175.3(NBEAL2):c.4654G>A (p.Gly1552Ser)
NM_015175.3(NBEAL2):c.4727T>C (p.Met1576Thr)
NM_015175.3(NBEAL2):c.4728G>A (p.Met1576Ile)
NM_015175.3(NBEAL2):c.474-4C>A rs375726193
NM_015175.3(NBEAL2):c.474-4C>T rs375726193
NM_015175.3(NBEAL2):c.4745G>A (p.Arg1582Gln)
NM_015175.3(NBEAL2):c.4759T>A (p.Tyr1587Asn)
NM_015175.3(NBEAL2):c.4786C>T (p.His1596Tyr)
NM_015175.3(NBEAL2):c.4840C>A (p.Arg1614Ser) rs200608141
NM_015175.3(NBEAL2):c.4841G>A (p.Arg1614His) rs186059483
NM_015175.3(NBEAL2):c.4843C>T (p.Arg1615Cys)
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs) rs2037042664
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs) rs2037048154
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[2] (p.Ala1656_Ala1658del) rs535036383
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[4] (p.Ala1658_Glu1659insAlaAlaAla)
NM_015175.3(NBEAL2):c.4951G>A (p.Ala1651Thr)
NM_015175.3(NBEAL2):c.5058C>G (p.Pro1686=)
NM_015175.3(NBEAL2):c.5062C>T (p.Leu1688=) rs1213813201
NM_015175.3(NBEAL2):c.5114G>A (p.Cys1705Tyr)
NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter)
NM_015175.3(NBEAL2):c.5132G>A (p.Arg1711His)
NM_015175.3(NBEAL2):c.5186C>T (p.Thr1729Met)
NM_015175.3(NBEAL2):c.5192C>T (p.Ala1731Val)
NM_015175.3(NBEAL2):c.5204A>G (p.Asp1735Gly)
NM_015175.3(NBEAL2):c.5211G>A (p.Met1737Ile)
NM_015175.3(NBEAL2):c.5263C>A (p.Arg1755Ser)
NM_015175.3(NBEAL2):c.5263C>T (p.Arg1755Cys)
NM_015175.3(NBEAL2):c.5278G>A (p.Ala1760Thr)
NM_015175.3(NBEAL2):c.5288G>A (p.Arg1763His)
NM_015175.3(NBEAL2):c.5291G>A (p.Arg1764Gln)
NM_015175.3(NBEAL2):c.5301+1G>A
NM_015175.3(NBEAL2):c.5332G>A (p.Ala1778Thr)
NM_015175.3(NBEAL2):c.5380A>T (p.Thr1794Ser)
NM_015175.3(NBEAL2):c.5413G>A (p.Ala1805Thr) rs2037120735
NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs) rs794726683
NM_015175.3(NBEAL2):c.5422C>T (p.Arg1808Cys)
NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs) rs2107413869
NM_015175.3(NBEAL2):c.5476dup (p.Arg1826fs) rs2107416290
NM_015175.3(NBEAL2):c.5477G>A (p.Arg1826His)
NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs) rs2107416663
NM_015175.3(NBEAL2):c.5516G>A (p.Arg1839His) rs758124017
NM_015175.3(NBEAL2):c.5534A>G (p.Asn1845Ser)
NM_015175.3(NBEAL2):c.554A>G (p.Gln185Arg)
NM_015175.3(NBEAL2):c.5607C>T (p.Thr1869=)
NM_015175.3(NBEAL2):c.5608G>A (p.Glu1870Lys)
NM_015175.3(NBEAL2):c.5657C>G (p.Thr1886Ser)
NM_015175.3(NBEAL2):c.5745G>C (p.Glu1915Asp)
NM_015175.3(NBEAL2):c.5777G>A (p.Cys1926Tyr) rs1575619957
NM_015175.3(NBEAL2):c.5782C>G (p.Leu1928Val)
NM_015175.3(NBEAL2):c.5794G>A (p.Val1932Met)
NM_015175.3(NBEAL2):c.5854A>G (p.Ser1952Gly)
NM_015175.3(NBEAL2):c.5874C>T (p.Thr1958=) rs138278141
NM_015175.3(NBEAL2):c.5881+11G>A rs201179667
NM_015175.3(NBEAL2):c.588C>T (p.Pro196=)
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp) rs771025246
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276
NM_015175.3(NBEAL2):c.605T>G (p.Leu202Arg) rs1397926183
NM_015175.3(NBEAL2):c.607dup (p.Ile203fs) rs1575592157
NM_015175.3(NBEAL2):c.6101A>C (p.Gln2034Pro)
NM_015175.3(NBEAL2):c.6165C>G (p.Pro2055=) rs201897629
NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg) rs2037277207
NM_015175.3(NBEAL2):c.6213T>G (p.Arg2071=)
NM_015175.3(NBEAL2):c.6229G>C (p.Glu2077Gln)
NM_015175.3(NBEAL2):c.6239T>A (p.Met2080Lys) rs1339171276
NM_015175.3(NBEAL2):c.6257C>T (p.Ala2086Val)
NM_015175.3(NBEAL2):c.6262C>T (p.Arg2088Trp)
NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu) rs387907115
NM_015175.3(NBEAL2):c.6319G>A (p.Val2107Met)
NM_015175.3(NBEAL2):c.634G>A (p.Gly212Arg) rs886058592
NM_015175.3(NBEAL2):c.6359G>A (p.Arg2120Gln) rs762258197
NM_015175.3(NBEAL2):c.6400G>A (p.Ala2134Thr)
NM_015175.3(NBEAL2):c.6404A>G (p.Gln2135Arg) rs886058602
NM_015175.3(NBEAL2):c.6413G>A (p.Arg2138Lys) rs886058603
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs) rs1575623114
NM_015175.3(NBEAL2):c.6449C>G (p.Thr2150Ser)
NM_015175.3(NBEAL2):c.6460T>C (p.Phe2154Leu) rs1575623184
NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter) rs2107437335
NM_015175.3(NBEAL2):c.6561-5C>T
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs) rs2037363765
NM_015175.3(NBEAL2):c.6591G>C (p.Ser2197=) rs554449998
NM_015175.3(NBEAL2):c.6651G>A (p.Pro2217=)
NM_015175.3(NBEAL2):c.6656TCT[1] (p.Phe2220del) rs776748718
NM_015175.3(NBEAL2):c.6691+3_6691+6dup rs557640338
NM_015175.3(NBEAL2):c.6692-47dup rs5848810
NM_015175.3(NBEAL2):c.6706T>G (p.Cys2236Gly) rs2037389157
NM_015175.3(NBEAL2):c.6753G>A (p.Pro2251=)
NM_015175.3(NBEAL2):c.6764C>T (p.Ser2255Phe)
NM_015175.3(NBEAL2):c.6801+1G>C rs1285731171
NM_015175.3(NBEAL2):c.682G>T (p.Gly228Cys) rs2036079664
NM_015175.3(NBEAL2):c.6831C>T (p.His2277=)
NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr)
NM_015175.3(NBEAL2):c.6879C>T (p.Ala2293=)
NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser) rs2107445568
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys) rs2037417315
NM_015175.3(NBEAL2):c.6919+12G>A rs772599355
NM_015175.3(NBEAL2):c.6920-1G>C rs2037428827
NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro) rs377326649
NM_015175.3(NBEAL2):c.7061G>A (p.Arg2354His)
NM_015175.3(NBEAL2):c.7103dup (p.His2368fs) rs2107448208
NM_015175.3(NBEAL2):c.7106T>C (p.Leu2369Pro)
NM_015175.3(NBEAL2):c.7153C>T (p.Pro2385Ser)
NM_015175.3(NBEAL2):c.7159G>C (p.Val2387Leu)
NM_015175.3(NBEAL2):c.7177C>T (p.His2393Tyr) rs886058604
NM_015175.3(NBEAL2):c.7180C>T (p.Arg2394Trp)
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs) rs2037501401
NM_015175.3(NBEAL2):c.7195_7197del (p.Phe2399del) rs2107452498
NM_015175.3(NBEAL2):c.7208G>T (p.Gly2403Val)
NM_015175.3(NBEAL2):c.7225-1G>C rs1575628744
NM_015175.3(NBEAL2):c.7237G>A (p.Ala2413Thr)
NM_015175.3(NBEAL2):c.725C>T (p.Pro242Leu)
NM_015175.3(NBEAL2):c.7270C>T (p.Pro2424Ser)
NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs) rs2107453711
NM_015175.3(NBEAL2):c.7329C>T (p.Ser2443=) rs1426292577
NM_015175.3(NBEAL2):c.7337C>T (p.Thr2446Met)
NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter) rs1575629721
NM_015175.3(NBEAL2):c.7460_7461del (p.Thr2487fs)
NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr) rs1405730457
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs) rs2037558268
NM_015175.3(NBEAL2):c.7513G>A (p.Val2505Ile) rs886058605
NM_015175.3(NBEAL2):c.7559G>A (p.Gly2520Asp) rs2037574717
NM_015175.3(NBEAL2):c.7564C>G (p.Arg2522Gly) rs772546336
NM_015175.3(NBEAL2):c.7566G>C (p.Arg2522=) rs762908007
NM_015175.3(NBEAL2):c.7585T>C (p.Trp2529Arg)
NM_015175.3(NBEAL2):c.7616T>C (p.Val2539Ala)
NM_015175.3(NBEAL2):c.7627C>G (p.Pro2543Ala)
NM_015175.3(NBEAL2):c.7650T>G (p.Tyr2550Ter)
NM_015175.3(NBEAL2):c.7748G>A (p.Arg2583His) rs374312429
NM_015175.3(NBEAL2):c.7774C>T (p.Arg2592Trp)
NM_015175.3(NBEAL2):c.7775G>A (p.Arg2592Gln)
NM_015175.3(NBEAL2):c.7779_7781dup (p.Leu2594_Gly2595insLeu)
NM_015175.3(NBEAL2):c.779T>C (p.Val260Ala)
NM_015175.3(NBEAL2):c.7838T>C (p.Ile2613Thr)
NM_015175.3(NBEAL2):c.7878+2T>A
NM_015175.3(NBEAL2):c.7901A>G (p.Tyr2634Cys)
NM_015175.3(NBEAL2):c.7923G>A (p.Arg2641=) rs2037640069
NM_015175.3(NBEAL2):c.792C>T (p.Ser264=) rs2036088919
NM_015175.3(NBEAL2):c.7937T>C (p.Leu2646Pro) rs2037641398
NM_015175.3(NBEAL2):c.7980G>A (p.Val2660=) rs1433248021
NM_015175.3(NBEAL2):c.8012T>A (p.Ile2671Asn) rs2037648006
NM_015175.3(NBEAL2):c.8071C>A (p.Arg2691Ser)
NM_015175.3(NBEAL2):c.808G>A (p.Gly270Ser) rs2036091159
NM_015175.3(NBEAL2):c.8164-1G>A rs2107465570
NM_015175.3(NBEAL2):c.8164-3C>G rs886058606
NM_015175.3(NBEAL2):c.8168G>A (p.Arg2723His)
NM_015175.3(NBEAL2):c.8181C>G (p.Phe2727Leu)
NM_015175.3(NBEAL2):c.8205G>T (p.Ser2735=)
NM_015175.3(NBEAL2):c.821G>C (p.Arg274Pro)
NM_015175.3(NBEAL2):c.8246A>G (p.Asn2749Ser)
NM_015175.3(NBEAL2):c.8264G>A (p.Ter2755=)
NM_015175.3(NBEAL2):c.842T>G (p.Phe281Cys)
NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter) rs372277612
NM_015175.3(NBEAL2):c.913G>A (p.Val305Ile) rs1317847353
NM_015175.3(NBEAL2):c.925+5del
NM_015175.3(NBEAL2):c.940A>G (p.Met314Val)

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