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: 323
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HGVS dbSNP
NC_000010.9:g.75329022_75406959dup
NM_001145031.2(PLAU):c.*935A>G rs886047214
NM_001365116.2(NBEAL2):c.1721G>A (p.Trp574Ter) rs794726682
NM_001377304.1(GFI1B):c.550C>T (p.Arg184Cys)
NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp) rs144046935
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.880dup (p.His294fs) rs397989794
NM_001377304.1(GFI1B):c.923T>C (p.Leu308Pro) rs775963992
NM_002658.5(PLAU):c.*141C>T rs4065
NM_002658.5(PLAU):c.*176G>T rs886047209
NM_002658.5(PLAU):c.*266T>C rs565576288
NM_002658.5(PLAU):c.*335G>A rs185909762
NM_002658.5(PLAU):c.*355C>T rs140559980
NM_002658.5(PLAU):c.*398C>T rs190769030
NM_002658.5(PLAU):c.*3G>A rs886047208
NM_002658.5(PLAU):c.*444T>A rs145634997
NM_002658.5(PLAU):c.*520G>T rs117134857
NM_002658.5(PLAU):c.*52T>A rs560674195
NM_002658.5(PLAU):c.*60A>C rs142117323
NM_002658.5(PLAU):c.*631C>T rs886047210
NM_002658.5(PLAU):c.*688C>T rs886047211
NM_002658.5(PLAU):c.*753C>T rs545559536
NM_002658.5(PLAU):c.*844del rs2227574
NM_002658.5(PLAU):c.*880T>A rs886047212
NM_002658.5(PLAU):c.*900A>G rs886047213
NM_002658.5(PLAU):c.-18C>A rs2227555
NM_002658.5(PLAU):c.-20A>G rs201591610
NM_002658.5(PLAU):c.-25C>T rs2227579
NM_002658.5(PLAU):c.-32+9C>G rs538342269
NM_002658.5(PLAU):c.-32G>A rs886047205
NM_002658.5(PLAU):c.-41G>A rs886047204
NM_002658.5(PLAU):c.1048T>C (p.Tyr350His) rs72816325
NM_002658.5(PLAU):c.1053C>T (p.Tyr351=) rs558920700
NM_002658.5(PLAU):c.1092C>T (p.Asp364=) rs148333167
NM_002658.5(PLAU):c.111A>G (p.Gly37=) rs200927138
NM_002658.5(PLAU):c.1222G>A (p.Val408Ile) rs200165551
NM_002658.5(PLAU):c.162A>G (p.Pro54=) rs142059320
NM_002658.5(PLAU):c.163A>G (p.Lys55Glu) rs147372618
NM_002658.5(PLAU):c.172G>A (p.Gly58Arg) rs55744193
NM_002658.5(PLAU):c.17C>A (p.Ala6Glu) rs371106595
NM_002658.5(PLAU):c.236G>A (p.Arg79Gln) rs201299522
NM_002658.5(PLAU):c.308C>T (p.Thr103Met) rs370278611
NM_002658.5(PLAU):c.316G>C (p.Ala106Pro) rs886047206
NM_002658.5(PLAU):c.368+6G>C rs186447765
NM_002658.5(PLAU):c.43G>T (p.Val15Leu) rs2227580
NM_002658.5(PLAU):c.57+6T>C rs770181188
NM_002658.5(PLAU):c.581C>A (p.Ala194Glu) rs145865648
NM_002658.5(PLAU):c.581C>T (p.Ala194Val) rs145865648
NM_002658.5(PLAU):c.602G>T (p.Arg201Leu) rs549461157
NM_002658.5(PLAU):c.681-7C>T rs2227566
NM_002658.5(PLAU):c.691A>C (p.Lys231Gln) rs2227567
NM_002658.5(PLAU):c.706A>G (p.Ile236Val) rs150389556
NM_002658.5(PLAU):c.750G>C (p.Gly250=) rs886047207
NM_002658.5(PLAU):c.822C>T (p.Asn274=) rs2227568
NM_002658.5(PLAU):c.878G>A (p.Arg293Gln) rs546931331
NM_002658.6(PLAU):c.*309T>C
NM_002658.6(PLAU):c.*474G>A
NM_002658.6(PLAU):c.*538G>A
NM_002658.6(PLAU):c.*917G>A
NM_002658.6(PLAU):c.*921T>C
NM_002658.6(PLAU):c.1193G>T (p.Arg398Leu)
NM_002658.6(PLAU):c.1229C>T (p.Thr410Met)
NM_002658.6(PLAU):c.143T>A (p.Ile48Asn)
NM_002658.6(PLAU):c.194A>G (p.Asp65Gly)
NM_002658.6(PLAU):c.236G>C (p.Arg79Pro)
NM_002658.6(PLAU):c.445C>T (p.His149Tyr)
NM_002658.6(PLAU):c.453C>T (p.Cys151=)
NM_002658.6(PLAU):c.559A>G (p.Ile187Val)
NM_002658.6(PLAU):c.735C>A (p.Asn245Lys)
NM_002658.6(PLAU):c.830-13T>C
NM_002658.6(PLAU):c.845G>A (p.Arg282His)
NM_002658.6(PLAU):c.972C>T (p.Thr324=)
NM_015175.2(NBEAL2):c.*104del rs397708574
NM_015175.2(NBEAL2):c.*151dup rs886058608
NM_015175.2(NBEAL2):c.*155C>A rs886058609
NM_015175.2(NBEAL2):c.*179C>A rs111271184
NM_015175.2(NBEAL2):c.*216A>G rs2305640
NM_015175.2(NBEAL2):c.*219A>C rs1048808
NM_015175.2(NBEAL2):c.*244C>G rs886058610
NM_015175.2(NBEAL2):c.*263C>T rs886058611
NM_015175.2(NBEAL2):c.*37C>G rs886058607
NM_015175.2(NBEAL2):c.*65A>G rs538014431
NM_015175.2(NBEAL2):c.-14_-9dup rs764010884
NM_015175.2(NBEAL2):c.-162C>T rs886058587
NM_015175.2(NBEAL2):c.-76G>A rs886058588
NM_015175.2(NBEAL2):c.1038C>T (p.Tyr346=) rs201015016
NM_015175.2(NBEAL2):c.1053G>A (p.Ala351=) rs185057557
NM_015175.2(NBEAL2):c.1081A>G (p.Thr361Ala) rs769842468
NM_015175.2(NBEAL2):c.1163T>C (p.Leu388Pro) rs387907113
NM_015175.2(NBEAL2):c.1212G>A (p.Glu404=) rs769130047
NM_015175.2(NBEAL2):c.123C>G (p.Ser41=) rs61734084
NM_015175.2(NBEAL2):c.1271G>A (p.Arg424Gln) rs768145657
NM_015175.2(NBEAL2):c.1340G>A (p.Arg447His) rs17079425
NM_015175.2(NBEAL2):c.1353G>A (p.Pro451=) rs115611407
NM_015175.2(NBEAL2):c.1380G>A (p.Pro460=) rs114363730
NM_015175.2(NBEAL2):c.1393G>A (p.Ala465Thr) rs746838327
NM_015175.2(NBEAL2):c.1531C>G (p.Arg511Gly) rs11720139
NM_015175.2(NBEAL2):c.1532G>C (p.Arg511Pro) rs770721155
NM_015175.2(NBEAL2):c.1600C>T (p.Arg534Cys) rs202209383
NM_015175.2(NBEAL2):c.1613G>A (p.Arg538His) rs368310677
NM_015175.2(NBEAL2):c.1618C>T (p.Arg540Trp) rs201777850
NM_015175.2(NBEAL2):c.1789C>T (p.Arg597Ter) rs1172581672
NM_015175.2(NBEAL2):c.1793G>A (p.Trp598Ter) rs1553659758
NM_015175.2(NBEAL2):c.1860del (p.Ala621fs) rs1235183015
NM_015175.2(NBEAL2):c.1871G>A (p.Arg624Gln) rs374527787
NM_015175.2(NBEAL2):c.1928A>T (p.Glu643Val) rs387907114
NM_015175.2(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710
NM_015175.2(NBEAL2):c.1975C>T (p.Arg659Trp) rs555487179
NM_015175.2(NBEAL2):c.1976G>A (p.Arg659Gln) rs567205565
NM_015175.2(NBEAL2):c.2195C>T (p.Thr732Met) rs376623029
NM_015175.2(NBEAL2):c.2219C>A (p.Thr740Lys) rs886058594
NM_015175.2(NBEAL2):c.2231C>T (p.Pro744Leu) rs375744996
NM_015175.2(NBEAL2):c.2376G>A (p.Arg792=) rs200489667
NM_015175.2(NBEAL2):c.2445G>A (p.Ala815=) rs116456978
NM_015175.2(NBEAL2):c.2473+7A>G rs886058595
NM_015175.2(NBEAL2):c.2486C>T (p.Thr829Met) rs577957158
NM_015175.2(NBEAL2):c.2532G>A (p.Arg844=) rs759157034
NM_015175.2(NBEAL2):c.2537T>C (p.Leu846Pro) rs1575602690
NM_015175.2(NBEAL2):c.2557-5C>G rs760228884
NM_015175.2(NBEAL2):c.2701C>T (p.Arg901Ter) rs387907112
NM_015175.2(NBEAL2):c.2887G>T (p.Gly963Cys) rs368638331
NM_015175.2(NBEAL2):c.3036C>T (p.Ser1012=) rs139218926
NM_015175.2(NBEAL2):c.3087C>T (p.Leu1029=) rs373998295
NM_015175.2(NBEAL2):c.3108C>T (p.Ala1036=) rs886058596
NM_015175.2(NBEAL2):c.3135G>A (p.Met1045Ile) rs373596976
NM_015175.2(NBEAL2):c.3308G>A (p.Arg1103Gln) rs374012992
NM_015175.2(NBEAL2):c.3327C>T (p.Asp1109=) rs143491739
NM_015175.2(NBEAL2):c.3373G>A (p.Asp1125Asn) rs373444282
NM_015175.2(NBEAL2):c.3414C>T (p.Ala1138=) rs886058597
NM_015175.2(NBEAL2):c.3607C>T (p.Arg1203Trp) rs769438781
NM_015175.2(NBEAL2):c.3728T>C (p.Leu1243Pro) rs753466927
NM_015175.2(NBEAL2):c.384C>G (p.Gly128=) rs113523265
NM_015175.2(NBEAL2):c.4000C>G (p.Pro1334Ala) rs564781036
NM_015175.2(NBEAL2):c.4081G>T (p.Glu1361Ter) rs1553663498
NM_015175.2(NBEAL2):c.4121G>A (p.Gly1374Asp) rs886058598
NM_015175.2(NBEAL2):c.4123G>A (p.Gly1375Ser) rs771754714
NM_015175.2(NBEAL2):c.4169C>T (p.Ser1390Leu) rs569206224
NM_015175.2(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454
NM_015175.2(NBEAL2):c.4246G>A (p.Gly1416Ser) rs781701383
NM_015175.2(NBEAL2):c.4257G>A (p.Pro1419=) rs116791394
NM_015175.2(NBEAL2):c.4306-15C>G rs886058599
NM_015175.2(NBEAL2):c.4367G>A (p.Arg1456His) rs117340996
NM_015175.2(NBEAL2):c.440A>G (p.Asp147Gly) rs886058591
NM_015175.2(NBEAL2):c.4485-8C>T rs145760682
NM_015175.2(NBEAL2):c.4532C>T (p.Ala1511Val) rs886058600
NM_015175.2(NBEAL2):c.4669C>G (p.Leu1557Val) rs534419583
NM_015175.2(NBEAL2):c.4704C>T (p.Asn1568=) rs12489851
NM_015175.2(NBEAL2):c.474-4C>T rs375726193
NM_015175.2(NBEAL2):c.4789G>A (p.Ala1597Thr) rs147659992
NM_015175.2(NBEAL2):c.4911C>T (p.Ser1637=) rs2305634
NM_015175.2(NBEAL2):c.4978C>T (p.Arg1660Cys) rs142355538
NM_015175.2(NBEAL2):c.4995G>A (p.Val1665=) rs2305635
NM_015175.2(NBEAL2):c.51+11C>T rs886058590
NM_015175.2(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643
NM_015175.2(NBEAL2):c.5277C>T (p.Arg1759=) rs370969690
NM_015175.2(NBEAL2):c.5301+11C>T rs201354947
NM_015175.2(NBEAL2):c.5302-13A>T rs11928558
NM_015175.2(NBEAL2):c.5356A>T (p.Thr1786Ser) rs373627201
NM_015175.2(NBEAL2):c.5381C>T (p.Thr1794Met) rs146899838
NM_015175.2(NBEAL2):c.5413dup (p.Ala1805fs) rs794726683
NM_015175.2(NBEAL2):c.544G>A (p.Ala182Thr) rs745890949
NM_015175.2(NBEAL2):c.5459+8G>A rs747932446
NM_015175.2(NBEAL2):c.5661A>C (p.Pro1887=) rs140548682
NM_015175.2(NBEAL2):c.5769G>A (p.Ser1923=) rs200100160
NM_015175.2(NBEAL2):c.5777G>A (p.Cys1926Tyr) rs1575619957
NM_015175.2(NBEAL2):c.5881+11G>A rs201179667
NM_015175.2(NBEAL2):c.6054C>G (p.Pro2018=) rs1079276
NM_015175.2(NBEAL2):c.607dup (p.Ile203fs) rs1575592157
NM_015175.2(NBEAL2):c.6145T>C (p.Tyr2049His) rs886058601
NM_015175.2(NBEAL2):c.6161C>T (p.Ser2054Phe) rs2305637
NM_015175.2(NBEAL2):c.6299C>T (p.Pro2100Leu) rs387907115
NM_015175.2(NBEAL2):c.6318C>T (p.Tyr2106=) rs141569354
NM_015175.2(NBEAL2):c.634G>A (p.Gly212Arg) rs886058592
NM_015175.2(NBEAL2):c.6359G>A (p.Arg2120Gln) rs762258197
NM_015175.2(NBEAL2):c.6404A>G (p.Gln2135Arg) rs886058602
NM_015175.2(NBEAL2):c.6413G>A (p.Arg2138Lys) rs886058603
NM_015175.2(NBEAL2):c.6460T>C (p.Phe2154Leu) rs1575623184
NM_015175.2(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630
NM_015175.2(NBEAL2):c.6723C>T (p.Asn2241=) rs563986757
NM_015175.2(NBEAL2):c.690G>C (p.Leu230=) rs181297174
NM_015175.2(NBEAL2):c.6919+9T>C rs3816531
NM_015175.2(NBEAL2):c.7135-13C>T rs767606190
NM_015175.2(NBEAL2):c.7177C>T (p.His2393Tyr) rs886058604
NM_015175.2(NBEAL2):c.7248G>A (p.Leu2416=) rs749025670
NM_015175.2(NBEAL2):c.7387C>T (p.Gln2463Ter) rs1575629721
NM_015175.2(NBEAL2):c.7407G>A (p.Pro2469=) rs568006584
NM_015175.2(NBEAL2):c.7507+6A>G rs74418680
NM_015175.2(NBEAL2):c.7513G>A (p.Val2505Ile) rs886058605
NM_015175.2(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865
NM_015175.2(NBEAL2):c.7736T>C (p.Ile2579Thr) rs778429939
NM_015175.2(NBEAL2):c.8096G>A (p.Arg2699His) rs376357238
NM_015175.2(NBEAL2):c.8164-3C>G rs886058606
NM_015175.2(NBEAL2):c.881C>G (p.Ser294Ter) rs372277612
NM_015175.2(NBEAL2):c.907C>G (p.Leu303Val) rs886058593
NM_015175.3(NBEAL2):c.*225G>T
NM_015175.3(NBEAL2):c.*246T>C
NM_015175.3(NBEAL2):c.*267G>C
NM_015175.3(NBEAL2):c.*333G>A
NM_015175.3(NBEAL2):c.*375T>G
NM_015175.3(NBEAL2):c.-120C>G
NM_015175.3(NBEAL2):c.-178G>A
NM_015175.3(NBEAL2):c.1102G>A (p.Asp368Asn)
NM_015175.3(NBEAL2):c.1114-9C>T
NM_015175.3(NBEAL2):c.1134C>T (p.Asp378=)
NM_015175.3(NBEAL2):c.1156A>G (p.Arg386Gly)
NM_015175.3(NBEAL2):c.1344C>T (p.Asn448=)
NM_015175.3(NBEAL2):c.1367C>T (p.Ala456Val)
NM_015175.3(NBEAL2):c.1476_1479dup (p.Leu494fs)
NM_015175.3(NBEAL2):c.1635G>A (p.Ser545=) rs371768924
NM_015175.3(NBEAL2):c.165C>T (p.Val55=)
NM_015175.3(NBEAL2):c.1687C>T (p.Arg563Cys)
NM_015175.3(NBEAL2):c.1725_1728dup (p.Ala577fs)
NM_015175.3(NBEAL2):c.1728T>G (p.Arg576=)
NM_015175.3(NBEAL2):c.1736G>A (p.Arg579His)
NM_015175.3(NBEAL2):c.1762G>A (p.Ala588Thr)
NM_015175.3(NBEAL2):c.1764G>A (p.Ala588=)
NM_015175.3(NBEAL2):c.187C>T (p.Leu63=) rs80105480
NM_015175.3(NBEAL2):c.1899-6C>T
NM_015175.3(NBEAL2):c.1907C>T (p.Thr636Ile)
NM_015175.3(NBEAL2):c.1933TTC[1] (p.Phe646del)
NM_015175.3(NBEAL2):c.1985A>G (p.Tyr662Cys)
NM_015175.3(NBEAL2):c.2062C>T (p.Arg688Cys)
NM_015175.3(NBEAL2):c.2356G>A (p.Ala786Thr)
NM_015175.3(NBEAL2):c.2375G>A rs140354422
NM_015175.3(NBEAL2):c.2487G>A (p.Thr829=)
NM_015175.3(NBEAL2):c.2505G>A (p.Glu835=)
NM_015175.3(NBEAL2):c.2552C>T (p.Pro851Leu)
NM_015175.3(NBEAL2):c.2556+12C>A
NM_015175.3(NBEAL2):c.2650-1G>A
NM_015175.3(NBEAL2):c.2686C>A (p.Leu896Met)
NM_015175.3(NBEAL2):c.2751dup (p.Asp918Ter)
NM_015175.3(NBEAL2):c.277G>A (p.Glu93Lys)
NM_015175.3(NBEAL2):c.2958+3G>A
NM_015175.3(NBEAL2):c.3058T>C (p.Tyr1020His)
NM_015175.3(NBEAL2):c.3106G>A (p.Ala1036Thr)
NM_015175.3(NBEAL2):c.3118+2T>G rs1349443190
NM_015175.3(NBEAL2):c.3119-6G>A
NM_015175.3(NBEAL2):c.3170G>C (p.Arg1057Pro)
NM_015175.3(NBEAL2):c.3184G>A (p.Val1062Ile)
NM_015175.3(NBEAL2):c.3210C>T (p.Arg1070=)
NM_015175.3(NBEAL2):c.3253G>A (p.Asp1085Asn)
NM_015175.3(NBEAL2):c.3291G>A (p.Ala1097=)
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400
NM_015175.3(NBEAL2):c.3384+5G>A rs370559049
NM_015175.3(NBEAL2):c.3529G>A (p.Asp1177Asn)
NM_015175.3(NBEAL2):c.3544-16G>A
NM_015175.3(NBEAL2):c.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg)
NM_015175.3(NBEAL2):c.3789+4A>C
NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=) rs369906164
NM_015175.3(NBEAL2):c.406C>T (p.Leu136=)
NM_015175.3(NBEAL2):c.4122C>T (p.Gly1374=)
NM_015175.3(NBEAL2):c.4126A>G (p.Ser1376Gly)
NM_015175.3(NBEAL2):c.4245C>T (p.Asp1415=)
NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys)
NM_015175.3(NBEAL2):c.4361C>T (p.Thr1454Met)
NM_015175.3(NBEAL2):c.441C>T (p.Asp147=)
NM_015175.3(NBEAL2):c.4459C>T (p.Arg1487Cys)
NM_015175.3(NBEAL2):c.4485-1G>T
NM_015175.3(NBEAL2):c.4526A>G (p.Lys1509Arg)
NM_015175.3(NBEAL2):c.4676G>A (p.Arg1559His)
NM_015175.3(NBEAL2):c.467G>A (p.Arg156His) rs199797249
NM_015175.3(NBEAL2):c.4840C>A (p.Arg1614Ser)
NM_015175.3(NBEAL2):c.4841G>A (p.Arg1614His)
NM_015175.3(NBEAL2):c.4846G>A (p.Glu1616Lys)
NM_015175.3(NBEAL2):c.4890del (p.Arg1631fs)
NM_015175.3(NBEAL2):c.4928_4929del (p.Asp1643fs)
NM_015175.3(NBEAL2):c.4979G>A (p.Arg1660His)
NM_015175.3(NBEAL2):c.5021G>A (p.Arg1674His)
NM_015175.3(NBEAL2):c.5082C>T (p.Ser1694=)
NM_015175.3(NBEAL2):c.5335C>T (p.Arg1779Cys)
NM_015175.3(NBEAL2):c.5413G>A (p.Ala1805Thr)
NM_015175.3(NBEAL2):c.5460-13G>T
NM_015175.3(NBEAL2):c.5516G>A (p.Arg1839His)
NM_015175.3(NBEAL2):c.5662C>G (p.Pro1888Ala)
NM_015175.3(NBEAL2):c.5664C>T (p.Pro1888=)
NM_015175.3(NBEAL2):c.5688C>T (p.Leu1896=)
NM_015175.3(NBEAL2):c.5864G>A (p.Arg1955His)
NM_015175.3(NBEAL2):c.5874C>T (p.Thr1958=)
NM_015175.3(NBEAL2):c.5900G>A (p.Arg1967Gln)
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp)
NM_015175.3(NBEAL2):c.5980G>A (p.Asp1994Asn)
NM_015175.3(NBEAL2):c.6023C>T (p.Thr2008Met)
NM_015175.3(NBEAL2):c.6157C>T (p.Arg2053Cys)
NM_015175.3(NBEAL2):c.6165C>G (p.Pro2055=)
NM_015175.3(NBEAL2):c.6173T>C (p.Met2058Thr)
NM_015175.3(NBEAL2):c.6202T>C (p.Trp2068Arg)
NM_015175.3(NBEAL2):c.6258G>A (p.Ala2086=)
NM_015175.3(NBEAL2):c.6351C>T (p.Ala2117=)
NM_015175.3(NBEAL2):c.6352G>A (p.Val2118Ile)
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=) rs187781607
NM_015175.3(NBEAL2):c.6409G>A (p.Val2137Met)
NM_015175.3(NBEAL2):c.6432del (p.Phe2144fs) rs1575623114
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs)
NM_015175.3(NBEAL2):c.6591G>C (p.Ser2197=)
NM_015175.3(NBEAL2):c.6706T>G (p.Cys2236Gly)
NM_015175.3(NBEAL2):c.6736G>A (p.Asp2246Asn)
NM_015175.3(NBEAL2):c.682G>T (p.Gly228Cys)
NM_015175.3(NBEAL2):c.6866G>A rs181413143
NM_015175.3(NBEAL2):c.6894T>A (p.Asn2298Lys)
NM_015175.3(NBEAL2):c.6919+12G>A
NM_015175.3(NBEAL2):c.6920-1G>C
NM_015175.3(NBEAL2):c.6959G>C (p.Arg2320Pro) rs377326649
NM_015175.3(NBEAL2):c.7134G>A (p.Glu2378=)
NM_015175.3(NBEAL2):c.7192_7202dup (p.Gln2402fs)
NM_015175.3(NBEAL2):c.7225-1G>C rs1575628744
NM_015175.3(NBEAL2):c.7280G>A (p.Arg2427His)
NM_015175.3(NBEAL2):c.7453C>T (p.Arg2485Trp)
NM_015175.3(NBEAL2):c.7501C>T (p.His2501Tyr)
NM_015175.3(NBEAL2):c.7506del (p.Asp2503fs)
NM_015175.3(NBEAL2):c.7564C>G (p.Arg2522Gly)
NM_015175.3(NBEAL2):c.7602+10G>A rs201513299
NM_015175.3(NBEAL2):c.7602+12G>A
NM_015175.3(NBEAL2):c.7836G>A (p.Gln2612=) rs72909849
NM_015175.3(NBEAL2):c.7922G>A (p.Arg2641Gln)
NM_015175.3(NBEAL2):c.7923G>A (p.Arg2641=)
NM_015175.3(NBEAL2):c.792C>T (p.Ser264=)
NM_015175.3(NBEAL2):c.7937T>C (p.Leu2646Pro)
NM_015175.3(NBEAL2):c.7980G>A (p.Val2660=)
NM_015175.3(NBEAL2):c.808G>A (p.Gly270Ser)
NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg) rs201641746
NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala) rs200666191
Single allele

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