ClinVar Miner

List of variants studied for alpha granule disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 376
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.5302-13A>T rs11928558 0.94785
NM_015175.3(NBEAL2):c.6560+31G>C rs2305638 0.55153
NM_002658.6(PLAU):c.*141C>T rs4065 0.51476
NM_002658.6(PLAU):c.*844del rs2227574 0.50929
NM_002658.6(PLAU):c.681-7C>T rs2227566 0.50640
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.4995G>A (p.Val1665=) rs2305635 0.34360
NM_015175.3(NBEAL2):c.6801+21A>C rs13081418 0.24157
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe) rs2305637 0.13655
NM_002658.6(PLAU):c.822C>T (p.Asn274=) rs2227568 0.12381
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_002658.6(PLAU):c.691A>C (p.Lys231Gln) rs2227567 0.04766
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.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_002658.6(PLAU):c.-18C>A rs2227555 0.00948
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_002658.6(PLAU):c.-25C>T rs2227579 0.00551
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg) rs55744193 0.00504
NM_002658.6(PLAU):c.1092C>T (p.Asp364=) rs148333167 0.00419
NM_015175.3(NBEAL2):c.3036C>T (p.Ser1012=) rs139218926 0.00414
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_002658.6(PLAU):c.*444T>A rs145634997 0.00312
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_002658.6(PLAU):c.-20A>G rs201591610 0.00241
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_002658.6(PLAU):c.*60A>C rs142117323 0.00177
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_002658.6(PLAU):c.162A>G (p.Pro54=) rs142059320 0.00165
NM_015175.3(NBEAL2):c.3384+5G>A rs370559049 0.00156
NM_015175.3(NBEAL2):c.*267G>C rs769202844 0.00147
NM_002658.6(PLAU):c.*520G>T rs117134857 0.00143
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.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.5021G>A (p.Arg1674His) rs200622688 0.00088
NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=) rs369906164 0.00073
NM_002658.6(PLAU):c.445C>T (p.His149Tyr) rs117135013 0.00070
NM_002658.6(PLAU):c.878G>A (p.Arg293Gln) rs546931331 0.00068
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_002658.6(PLAU):c.*355C>T rs140559980 0.00056
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.5460-13G>T rs372705263 0.00053
NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) rs527297896 0.00049
NM_015175.3(NBEAL2):c.5769G>A (p.Ser1923=) rs200100160 0.00045
NM_002658.6(PLAU):c.*335G>A rs185909762 0.00038
NM_015175.3(NBEAL2):c.5277C>T (p.Arg1759=) rs370969690 0.00032
NM_002658.6(PLAU):c.1222G>A (p.Val408Ile) rs200165551 0.00031
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.5356A>T (p.Thr1786Ser) rs373627201 0.00024
NM_002658.6(PLAU):c.236G>A (p.Arg79Gln) rs201299522 0.00022
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.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_002658.6(PLAU):c.*900A>G rs886047213 0.00016
NM_015175.3(NBEAL2):c.1613G>A (p.Arg538His) rs368310677 0.00016
NM_002658.6(PLAU):c.453C>T (p.Cys151=) rs374267816 0.00014
NM_015175.3(NBEAL2):c.5459+8G>A rs747932446 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_002658.6(PLAU):c.581C>T (p.Ala194Val) rs145865648 0.00011
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_002658.6(PLAU):c.*753C>T rs545559536 0.00010
NM_002658.6(PLAU):c.-32+9C>G rs538342269 0.00010
NM_015175.3(NBEAL2):c.3135G>A (p.Met1045Ile) rs373596976 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.7280G>A (p.Arg2427His) rs199764240 0.00010
NM_015175.3(NBEAL2):c.8096G>A (p.Arg2699His) rs376357238 0.00010
NM_002658.6(PLAU):c.111A>G (p.Gly37=) rs200927138 0.00009
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_002658.6(PLAU):c.*266T>C rs565576288 0.00008
NM_002658.6(PLAU):c.972C>T (p.Thr324=) rs375950656 0.00008
NM_015175.3(NBEAL2):c.690G>C (p.Leu230=) rs181297174 0.00008
NM_002658.6(PLAU):c.*921T>C rs868098697 0.00007
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_001377304.1(GFI1B):c.550C>T (p.Arg184Cys) rs771408008 0.00006
NM_002658.6(PLAU):c.706A>G (p.Ile236Val) rs150389556 0.00006
NM_015175.3(NBEAL2):c.-178G>A rs892777590 0.00006
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_002658.6(PLAU):c.*917G>A rs879420957 0.00005
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.6723C>T (p.Asn2241=) rs563986757 0.00005
NM_015175.3(NBEAL2):c.7922G>A (p.Arg2641Gln) rs765996332 0.00005
NM_002658.6(PLAU):c.*52T>A rs560674195 0.00004
NM_002658.6(PLAU):c.*631C>T rs886047210 0.00004
NM_002658.6(PLAU):c.308C>T (p.Thr103Met) rs370278611 0.00004
NM_002658.6(PLAU):c.845G>A (p.Arg282His) rs34930250 0.00004
NM_015175.3(NBEAL2):c.-76G>A rs886058588 0.00004
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.7407G>A (p.Pro2469=) rs568006584 0.00004
NM_002658.6(PLAU):c.1053C>T (p.Tyr351=) rs558920700 0.00003
NM_002658.6(PLAU):c.1193G>T (p.Arg398Leu) rs3805118 0.00003
NM_002658.6(PLAU):c.163A>G (p.Lys55Glu) rs147372618 0.00003
NM_002658.6(PLAU):c.368+6G>C rs186447765 0.00003
NM_015175.3(NBEAL2):c.1762G>A (p.Ala588Thr) rs766113174 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_001377304.1(GFI1B):c.551G>A (p.Arg184His) rs570058270 0.00002
NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp) rs144046935 0.00002
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.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_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr) rs753406078 0.00001
NM_001377304.1(GFI1B):c.923T>C (p.Leu308Pro) rs775963992 0.00001
NM_002658.4(PLAU):c.*935A>G rs886047214 0.00001
NM_002658.6(PLAU):c.*309T>C rs1026194457 0.00001
NM_002658.6(PLAU):c.*474G>A rs184153523 0.00001
NM_002658.6(PLAU):c.*880T>A rs886047212 0.00001
NM_002658.6(PLAU):c.-32G>A rs886047205 0.00001
NM_002658.6(PLAU):c.1229C>T (p.Thr410Met) rs764252595 0.00001
NM_002658.6(PLAU):c.143T>A (p.Ile48Asn) rs764051398 0.00001
NM_002658.6(PLAU):c.17C>A (p.Ala6Glu) rs371106595 0.00001
NM_002658.6(PLAU):c.194A>G (p.Asp65Gly) rs183208966 0.00001
NM_002658.6(PLAU):c.57+6T>C rs770181188 0.00001
NM_002658.6(PLAU):c.602G>T (p.Arg201Leu) rs549461157 0.00001
NM_015175.3(NBEAL2):c.*65A>G rs538014431 0.00001
NM_015175.3(NBEAL2):c.-162C>T rs886058587 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.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.3789+4A>C rs768165695 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.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.7134G>A (p.Glu2378=) rs1320380958 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
NC_000010.10:g.(?_75670858)_(75677260_?)dup
NC_000010.9:g.75329022_75406959dup
NM_001377304.1(GFI1B):c.230C>T (p.Pro77Leu)
NM_001377304.1(GFI1B):c.520A>G (p.Thr174Ala)
NM_001377304.1(GFI1B):c.521C>T (p.Thr174Ile) rs376762177
NM_001377304.1(GFI1B):c.551G>C (p.Arg184Pro) rs570058270
NM_001377304.1(GFI1B):c.648G>C (p.Gln216His)
NM_001377304.1(GFI1B):c.649-5G>C
NM_001377304.1(GFI1B):c.692G>T (p.Arg231Leu)
NM_001377304.1(GFI1B):c.731del (p.Asp244fs) rs2118905794
NM_001377304.1(GFI1B):c.758G>A (p.Cys253Tyr) rs1849225412
NM_001377304.1(GFI1B):c.760G>A (p.Gly254Ser)
NM_001377304.1(GFI1B):c.782C>G (p.Ser261Cys)
NM_001377304.1(GFI1B):c.793A>T (p.Lys265Ter) rs1554724694
NM_001377304.1(GFI1B):c.859C>T (p.Gln287Ter) rs587777211
NM_001377304.1(GFI1B):c.869A>G (p.Asn290Ser)
NM_001377304.1(GFI1B):c.880dup (p.His294fs) rs397989794
NM_001377304.1(GFI1B):c.981C>G (p.His327Gln) rs147973999
NM_002658.6(PLAU):c.*176G>T rs886047209
NM_002658.6(PLAU):c.*398C>T rs190769030
NM_002658.6(PLAU):c.*3G>A rs886047208
NM_002658.6(PLAU):c.*538G>A rs185856064
NM_002658.6(PLAU):c.*688C>T rs886047211
NM_002658.6(PLAU):c.-41G>A rs886047204
NM_002658.6(PLAU):c.1048T>C (p.Tyr350His) rs72816325
NM_002658.6(PLAU):c.236G>C (p.Arg79Pro) rs201299522
NM_002658.6(PLAU):c.316G>C (p.Ala106Pro) rs886047206
NM_002658.6(PLAU):c.43G>T (p.Val15Leu) rs2227580
NM_002658.6(PLAU):c.467dup (p.Pro157fs) rs1435611170
NM_002658.6(PLAU):c.539T>C (p.Ile180Thr)
NM_002658.6(PLAU):c.548A>G (p.Glu183Gly)
NM_002658.6(PLAU):c.559A>G (p.Ile187Val) rs528761202
NM_002658.6(PLAU):c.581C>A (p.Ala194Glu) rs145865648
NM_002658.6(PLAU):c.735C>A (p.Asn245Lys) rs1249124159
NM_002658.6(PLAU):c.750G>C (p.Gly250=) rs886047207
NM_002658.6(PLAU):c.754A>T (p.Met252Leu)
NM_002658.6(PLAU):c.830-13T>C rs376665535
NM_002658.6(PLAU):c.983A>G (p.Tyr328Cys)
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.-120C>G rs1011004600
NM_015175.3(NBEAL2):c.-14_-9dup rs764010884
NM_015175.3(NBEAL2):c.1081A>G (p.Thr361Ala) rs769842468
NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro) rs387907113
NM_015175.3(NBEAL2):c.1271G>A (p.Arg424Gln) rs768145657
NM_015175.3(NBEAL2):c.1376del (p.Leu459fs) rs2107337553
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs) rs781366964
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.1725_1728dup (p.Ala577fs) rs2036418481
NM_015175.3(NBEAL2):c.1789C>T (p.Arg597Ter) rs1172581672
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.1985A>G (p.Tyr662Cys) rs1171833737
NM_015175.3(NBEAL2):c.2044A>T (p.Ile682Phe) rs773164015
NM_015175.3(NBEAL2):c.2151G>C (p.Glu717Asp) rs2107346255
NM_015175.3(NBEAL2):c.2219C>A (p.Thr740Lys) rs886058594
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.2701C>T (p.Arg901Ter) rs387907112
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter) rs2036579205
NM_015175.3(NBEAL2):c.3106G>A (p.Ala1036Thr) rs769080091
NM_015175.3(NBEAL2):c.3118+2T>G rs1349443190
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.3327C>T (p.Asp1109=) rs143491739
NM_015175.3(NBEAL2):c.3414C>T (p.Ala1138=) rs886058597
NM_015175.3(NBEAL2):c.368C>G (p.Pro123Arg) rs371460227
NM_015175.3(NBEAL2):c.3728T>C (p.Leu1243Pro) rs753466927
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.37C>T (p.Leu13Phe)
NM_015175.3(NBEAL2):c.3907C>A (p.Pro1303Thr)
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.4121G>A (p.Gly1374Asp) rs886058598
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys) rs1001207491
NM_015175.3(NBEAL2):c.4306-15C>G rs886058599
NM_015175.3(NBEAL2):c.4371_4375dup (p.Glu1459fs)
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.4526A>G (p.Lys1509Arg) rs2036970287
NM_015175.3(NBEAL2):c.474-4C>T rs375726193
NM_015175.3(NBEAL2):c.4745G>A (p.Arg1582Gln)
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.4890del (p.Arg1631fs) rs2037042664
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs) rs2037048154
NM_015175.3(NBEAL2):c.51+11C>T rs886058590
NM_015175.3(NBEAL2):c.5125G>T (p.Glu1709Ter)
NM_015175.3(NBEAL2):c.5413G>A (p.Ala1805Thr) rs2037120735
NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs) rs794726683
NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs) rs2107413869
NM_015175.3(NBEAL2):c.5476dup (p.Arg1826fs) rs2107416290
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.5777G>A (p.Cys1926Tyr) rs1575619957
NM_015175.3(NBEAL2):c.5874C>T (p.Thr1958=) rs138278141
NM_015175.3(NBEAL2):c.5881+11G>A rs201179667
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.607dup (p.Ile203fs) rs1575592157
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.6239T>A (p.Met2080Lys) rs1339171276
NM_015175.3(NBEAL2):c.6299C>T (p.Pro2100Leu) rs387907115
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.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.6460T>C (p.Phe2154Leu) rs1575623184
NM_015175.3(NBEAL2):c.6468T>A (p.Tyr2156Ter) rs2107437335
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs) rs2037363765
NM_015175.3(NBEAL2):c.6591G>C (p.Ser2197=) rs554449998
NM_015175.3(NBEAL2):c.6706T>G (p.Cys2236Gly) rs2037389157
NM_015175.3(NBEAL2):c.6753G>A (p.Pro2251=)
NM_015175.3(NBEAL2):c.682G>T (p.Gly228Cys) rs2036079664
NM_015175.3(NBEAL2):c.6877G>A (p.Ala2293Thr)
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.7103dup (p.His2368fs) rs2107448208
NM_015175.3(NBEAL2):c.7177C>T (p.His2393Tyr) rs886058604
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs) rs2037501401
NM_015175.3(NBEAL2):c.7225-1G>C rs1575628744
NM_015175.3(NBEAL2):c.7284del (p.Asn2428fs) rs2107453711
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.7564C>G (p.Arg2522Gly) rs772546336
NM_015175.3(NBEAL2):c.7585T>C (p.Trp2529Arg)
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.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.881C>G (p.Ser294Ter) rs372277612
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.