ClinVar Miner

List of variants studied for alpha granule disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 267
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HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.5302-13A>T rs11928558 0.94785
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.4995G>A (p.Val1665=) rs2305635 0.34360
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_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.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_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_015175.3(NBEAL2):c.544G>A (p.Ala182Thr) rs745890949 0.00012
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.1613G>A (p.Arg538His) rs368310677 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_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.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.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.*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_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.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.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.3119-6G>A rs771952228 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.4123G>A (p.Gly1375Ser) rs771754714 0.00001
NM_015175.3(NBEAL2):c.4459C>T (p.Arg1487Cys) rs763635071 0.00001
NM_015175.3(NBEAL2):c.6145T>C (p.Tyr2049His) rs886058601 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_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.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.830-13T>C rs376665535
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.1271G>A (p.Arg424Gln) rs768145657
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.1907C>T (p.Thr636Ile) rs564164512
NM_015175.3(NBEAL2):c.1985A>G (p.Tyr662Cys) rs1171833737
NM_015175.3(NBEAL2):c.2219C>A (p.Thr740Lys) rs886058594
NM_015175.3(NBEAL2):c.2686C>A (p.Leu896Met) rs371538211
NM_015175.3(NBEAL2):c.3106G>A (p.Ala1036Thr) rs769080091
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.3728T>C (p.Leu1243Pro) rs753466927
NM_015175.3(NBEAL2):c.4121G>A (p.Gly1374Asp) rs886058598
NM_015175.3(NBEAL2):c.4306-15C>G rs886058599
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.474-4C>T rs375726193
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.51+11C>T rs886058590
NM_015175.3(NBEAL2):c.5413G>A (p.Ala1805Thr) rs2037120735
NM_015175.3(NBEAL2):c.5516G>A (p.Arg1839His) rs758124017
NM_015175.3(NBEAL2):c.5874C>T (p.Thr1958=) rs138278141
NM_015175.3(NBEAL2):c.5881+11G>A rs201179667
NM_015175.3(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276
NM_015175.3(NBEAL2):c.6165C>G (p.Pro2055=) rs201897629
NM_015175.3(NBEAL2):c.634G>A (p.Gly212Arg) rs886058592
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.6591G>C (p.Ser2197=) rs554449998
NM_015175.3(NBEAL2):c.6706T>G (p.Cys2236Gly) rs2037389157
NM_015175.3(NBEAL2):c.682G>T (p.Gly228Cys) rs2036079664
NM_015175.3(NBEAL2):c.6919+12G>A rs772599355
NM_015175.3(NBEAL2):c.7177C>T (p.His2393Tyr) rs886058604
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.7923G>A (p.Arg2641=) rs2037640069
NM_015175.3(NBEAL2):c.792C>T (p.Ser264=) rs2036088919
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.8164-3C>G rs886058606

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