ClinVar Miner

List of variants studied for Gray platelet syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 271
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015175.3(NBEAL2):c.5302-13A>T rs11928558 0.95269
NM_015175.3(NBEAL2):c.6560+31G>C rs2305638 0.55914
NM_015175.3(NBEAL2):c.1033-28C>T rs13066214 0.49587
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.6801+21A>C rs13081418 0.25010
NM_015175.3(NBEAL2):c.6161C>T (p.Ser2054Phe) rs2305637 0.14554
NM_015175.3(NBEAL2):c.1353G>A (p.Pro451=) rs115611407 0.06231
NM_015175.3(NBEAL2):c.*179C>A rs111271184 0.06130
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.1340G>A (p.Arg447His) rs17079425 0.03398
NM_015175.3(NBEAL2):c.7507+6A>G rs74418680 0.02816
NM_015175.3(NBEAL2):c.4704C>T (p.Asn1568=) rs12489851 0.02789
NM_015175.3(NBEAL2):c.2445G>A (p.Ala815=) rs116456978 0.01958
NM_015175.3(NBEAL2):c.*219A>C rs1048808 0.01550
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 0.00573
NM_015175.3(NBEAL2):c.4170G>A (p.Ser1390=) rs139822454 0.00529
NM_015175.3(NBEAL2):c.3036C>T (p.Ser1012=) rs139218926 0.00526
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.5301+11C>T rs201354947 0.00303
NM_015175.3(NBEAL2):c.6866G>A (p.Arg2289Gln) rs181413143 0.00290
NM_015175.3(NBEAL2):c.5103C>T (p.Phe1701=) rs199537643 0.00260
NM_015175.3(NBEAL2):c.2376G>A (p.Arg792=) rs200489667 0.00230
NM_015175.3(NBEAL2):c.*333G>A rs538183501 0.00200
NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=) rs201015016 0.00172
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_015175.3(NBEAL2):c.6378C>T (p.Ile2126=) rs187781607 0.00159
NM_015175.3(NBEAL2):c.3384+5G>A rs370559049 0.00156
NM_015175.3(NBEAL2):c.*267G>C rs769202844 0.00147
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00130
NM_015175.3(NBEAL2):c.7602+10G>A rs201513299 0.00124
NM_015175.3(NBEAL2):c.384C>G (p.Gly128=) rs113523265 0.00121
NM_015175.3(NBEAL2):c.8230G>C (p.Gly2744Arg) rs201641746 0.00112
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.3338C>T (p.Thr1113Met) rs202071400 0.00086
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.6352G>A (p.Val2118Ile) rs146270553 0.00056
NM_015175.3(NBEAL2):c.4029T>C (p.Asp1343=) rs369906164 0.00054
NM_015175.3(NBEAL2):c.5460-13G>T rs372705263 0.00053
NM_015175.3(NBEAL2):c.5769G>A (p.Ser1923=) rs200100160 0.00045
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.1635G>A (p.Ser545=) rs371768924 0.00029
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_015175.3(NBEAL2):c.4367G>A (p.Arg1456His) rs117340996 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.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.1613G>A (p.Arg538His) rs368310677 0.00016
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.2062C>T (p.Arg688Cys) rs201210287 0.00011
NM_015175.3(NBEAL2):c.2195C>T (p.Thr732Met) rs376623029 0.00011
NM_015175.3(NBEAL2):c.*263C>T rs886058611 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.690G>C (p.Leu230=) rs181297174 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.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.-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.4169C>T (p.Ser1390Leu) rs569206224 0.00006
NM_015175.3(NBEAL2):c.4789G>A (p.Ala1597Thr) rs147659992 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.7922G>A (p.Arg2641Gln) rs765996332 0.00005
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.7407G>A (p.Pro2469=) rs568006584 0.00004
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.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.6723C>T (p.Asn2241=) rs563986757 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_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.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
NM_015175.2(NBEAL2):c.6920delG
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)
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.2151G>C (p.Glu717Asp)
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)
NM_015175.3(NBEAL2):c.3728T>C (p.Leu1243Pro) rs753466927
NM_015175.3(NBEAL2):c.3774_3780delinsCAGCGTTCGCCTCAGA (p.Asp1259_Ile1260delinsSerValArgLeuArg) rs2036808727
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter) rs1553663498
NM_015175.3(NBEAL2):c.4085G>A (p.Arg1362Gln)
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.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.5413G>A (p.Ala1805Thr) rs2037120735
NM_015175.3(NBEAL2):c.5413dup (p.Ala1805fs) rs794726683
NM_015175.3(NBEAL2):c.5431_5438del (p.Ala1811fs)
NM_015175.3(NBEAL2):c.5476dup (p.Arg1826fs)
NM_015175.3(NBEAL2):c.5497G>A (p.Glu1833Lys)
NM_015175.3(NBEAL2):c.5502_5509del (p.Tyr1835fs)
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)
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)
NM_015175.3(NBEAL2):c.6568del (p.Cys2190fs) rs2037363765
NM_015175.3(NBEAL2):c.6591G>C (p.Ser2197=) rs554449998
NM_015175.3(NBEAL2):c.6631G>A (p.Asp2211Asn)
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.6877G>A (p.Ala2293Thr)
NM_015175.3(NBEAL2):c.6893A>G (p.Asn2298Ser)
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)
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)
NM_015175.3(NBEAL2):c.7387C>T (p.Gln2463Ter) rs1575629721
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.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
NM_015175.3(NBEAL2):c.8164-3C>G rs886058606
NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter) rs372277612

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.