ClinVar Miner

List of variants in gene STXBP2 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 535
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HGVS dbSNP gnomAD frequency
NM_006949.4(STXBP2):c.*12G>A rs28464386 0.02393
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) rs144586070 0.01200
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) rs61736586 0.00892
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) rs76836497 0.00700
NM_006949.4(STXBP2):c.1459G>A (p.Val487Met) rs150174842 0.00195
NM_006949.4(STXBP2):c.495C>T (p.Arg165=) rs2303116 0.00164
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) rs146425381 0.00142
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) rs11538945 0.00060
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_006949.4(STXBP2):c.1128C>T (p.Asp376=) rs201407516 0.00029
NM_006949.4(STXBP2):c.578+12A>C rs1245371852 0.00029
NM_006949.4(STXBP2):c.1357-13G>A rs370994106 0.00027
NM_006949.4(STXBP2):c.285G>A (p.Pro95=) rs150567570 0.00025
NM_006949.4(STXBP2):c.366T>C (p.Arg122=) rs1375830574 0.00021
NM_006949.4(STXBP2):c.387G>A (p.Thr129=) rs369507304 0.00021
NM_006949.4(STXBP2):c.988C>T (p.Leu330=) rs377258419 0.00021
NM_006949.4(STXBP2):c.1246+8G>A rs371596126 0.00017
NM_006949.4(STXBP2):c.1027-10C>T rs201961771 0.00016
NM_006949.4(STXBP2):c.1530C>T (p.Ala510=) rs755717157 0.00016
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met) rs201293382 0.00016
NM_006949.4(STXBP2):c.1431G>A (p.Pro477=) rs137978942 0.00015
NM_006949.4(STXBP2):c.561G>A (p.Pro187=) rs535372251 0.00015
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) rs370890802 0.00015
NM_006949.4(STXBP2):c.38-17C>T rs201996502 0.00014
NM_006949.4(STXBP2):c.1458C>T (p.Ala486=) rs140877133 0.00013
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys) rs542557411 0.00012
NM_006949.4(STXBP2):c.960+11del rs777484527 0.00012
NM_006949.4(STXBP2):c.312C>T (p.Ile104=) rs149590619 0.00011
NM_006949.4(STXBP2):c.902+20G>A rs779607080 0.00011
NM_006949.4(STXBP2):c.903-18G>A rs202217724 0.00010
NM_006949.4(STXBP2):c.663+11G>A rs199892437 0.00009
NM_006949.4(STXBP2):c.820G>T (p.Ala274Ser) rs199971069 0.00009
NM_006949.4(STXBP2):c.1761G>A (p.Leu587=) rs532356732 0.00008
NM_006949.4(STXBP2):c.333C>T (p.Pro111=) rs144233139 0.00008
NM_006949.4(STXBP2):c.672G>A (p.Glu224=) rs371258399 0.00008
NM_006949.4(STXBP2):c.170-12T>C rs764720379 0.00007
NM_006949.4(STXBP2):c.1356+14G>A rs373620307 0.00006
NM_006949.4(STXBP2):c.1453-5G>A rs113332946 0.00006
NM_006949.4(STXBP2):c.1453-8G>A rs1452988617 0.00006
NM_006949.4(STXBP2):c.1647C>T (p.Ala549=) rs763651051 0.00006
NM_006949.4(STXBP2):c.494G>A (p.Arg165His) rs747969201 0.00006
NM_006949.4(STXBP2):c.744G>A (p.Thr248=) rs150126189 0.00006
NM_006949.4(STXBP2):c.1002G>A (p.Pro334=) rs770925163 0.00005
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=) rs773575515 0.00005
NM_006949.4(STXBP2):c.240G>A (p.Thr80=) rs372370815 0.00005
NM_006949.4(STXBP2):c.759G>A (p.Ala253=) rs145260482 0.00005
NM_006949.4(STXBP2):c.902+19C>T rs200887480 0.00005
NM_006949.4(STXBP2):c.960+9G>A rs371345040 0.00005
NM_006949.4(STXBP2):c.1065G>A (p.Lys355=) rs756291718 0.00004
NM_006949.4(STXBP2):c.1068C>T (p.His356=) rs376159991 0.00004
NM_006949.4(STXBP2):c.1188G>A (p.Ala396=) rs371355447 0.00004
NM_006949.4(STXBP2):c.1386G>A (p.Pro462=) rs778481780 0.00004
NM_006949.4(STXBP2):c.1452+7G>T rs746604591 0.00004
NM_006949.4(STXBP2):c.1453-6C>T rs200538123 0.00004
NM_006949.4(STXBP2):c.1548C>T (p.Phe516=) rs201641708 0.00004
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=) rs750599225 0.00004
NM_006949.4(STXBP2):c.169+10C>G rs187240521 0.00004
NM_006949.4(STXBP2):c.1719G>A (p.Pro573=) rs377263310 0.00004
NM_006949.4(STXBP2):c.27G>C (p.Val9=) rs969393527 0.00004
NM_006949.4(STXBP2):c.507C>G (p.Leu169=) rs373301117 0.00004
NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe) rs188212047 0.00004
NM_006949.4(STXBP2):c.612C>T (p.Ala204=) rs113033216 0.00004
NM_006949.4(STXBP2):c.663+10C>T rs375337142 0.00004
NM_006949.4(STXBP2):c.747C>T (p.Phe249=) rs772393674 0.00004
NM_006949.4(STXBP2):c.1108-5C>T rs200577190 0.00003
NM_006949.4(STXBP2):c.1173G>A (p.Pro391=) rs201135827 0.00003
NM_006949.4(STXBP2):c.1185C>T (p.Asp395=) rs759967009 0.00003
NM_006949.4(STXBP2):c.1203C>T (p.Tyr401=) rs373267410 0.00003
NM_006949.4(STXBP2):c.1263C>T (p.Asn421=) rs772865803 0.00003
NM_006949.4(STXBP2):c.1353C>T (p.Pro451=) rs376551499 0.00003
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=) rs980486322 0.00003
NM_006949.4(STXBP2):c.1374C>T (p.Ser458=) rs1265788012 0.00003
NM_006949.4(STXBP2):c.1453-10C>T rs368488488 0.00003
NM_006949.4(STXBP2):c.1500C>T (p.Ser500=) rs368696592 0.00003
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=) rs374131788 0.00003
NM_006949.4(STXBP2):c.234C>T (p.Ser78=) rs1481967878 0.00003
NM_006949.4(STXBP2):c.321C>T (p.Thr107=) rs886054703 0.00003
NM_006949.4(STXBP2):c.429+3_429+9dup rs747472367 0.00003
NM_006949.4(STXBP2):c.48C>T (p.Ser16=) rs138548712 0.00003
NM_006949.4(STXBP2):c.579-4C>T rs575135858 0.00003
NM_006949.4(STXBP2):c.981C>A (p.Ser327=) rs755154858 0.00003
NM_006949.4(STXBP2):c.1026+9G>A rs201365133 0.00002
NM_006949.4(STXBP2):c.1107+16C>T rs769535445 0.00002
NM_006949.4(STXBP2):c.1108-4G>A rs1175745070 0.00002
NM_006949.4(STXBP2):c.1246+16A>G rs756857906 0.00002
NM_006949.4(STXBP2):c.1247-9G>A rs375777278 0.00002
NM_006949.4(STXBP2):c.1290T>C (p.Asn430=) rs372890572 0.00002
NM_006949.4(STXBP2):c.1419C>T (p.Ser473=) rs774480794 0.00002
NM_006949.4(STXBP2):c.1653C>T (p.Tyr551=) rs767500700 0.00002
NM_006949.4(STXBP2):c.1662C>T (p.Thr554=) rs1423929519 0.00002
NM_006949.4(STXBP2):c.169+13G>A rs758194101 0.00002
NM_006949.4(STXBP2):c.1692C>T (p.Leu564=) rs899199010 0.00002
NM_006949.4(STXBP2):c.247-14T>A rs751543240 0.00002
NM_006949.4(STXBP2):c.303G>A (p.Ala101=) rs766198135 0.00002
NM_006949.4(STXBP2):c.325+9G>A rs555724573 0.00002
NM_006949.4(STXBP2):c.326-11C>T rs759396575 0.00002
NM_006949.4(STXBP2):c.417C>G (p.Pro139=) rs756584035 0.00002
NM_006949.4(STXBP2):c.441C>T (p.Leu147=) rs749948057 0.00002
NM_006949.4(STXBP2):c.579-20G>A rs564536916 0.00002
NM_006949.4(STXBP2):c.579-5G>A rs770074311 0.00002
NM_006949.4(STXBP2):c.902+12C>T rs1473496130 0.00002
NM_006949.4(STXBP2):c.954G>A (p.Thr318=) rs367553126 0.00002
NM_006949.4(STXBP2):c.1026+17A>G rs1171346483 0.00001
NM_006949.4(STXBP2):c.1026+8C>T rs775248878 0.00001
NM_006949.4(STXBP2):c.1027-19C>T rs749674004 0.00001
NM_006949.4(STXBP2):c.1080G>A (p.Ser360=) rs746338532 0.00001
NM_006949.4(STXBP2):c.1108-10A>G rs765625177 0.00001
NM_006949.4(STXBP2):c.1108-18C>A rs762061676 0.00001
NM_006949.4(STXBP2):c.1125C>T (p.Ser375=) rs147282248 0.00001
NM_006949.4(STXBP2):c.1152C>T (p.Asp384=) rs1002500717 0.00001
NM_006949.4(STXBP2):c.1197C>T (p.Pro399=) rs756948868 0.00001
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=) rs771186417 0.00001
NM_006949.4(STXBP2):c.1246+18G>A rs1289146267 0.00001
NM_006949.4(STXBP2):c.1264C>T (p.Leu422=) rs1022914979 0.00001
NM_006949.4(STXBP2):c.1266G>A (p.Leu422=) rs1357825251 0.00001
NM_006949.4(STXBP2):c.1273C>T (p.Leu425=) rs766203399 0.00001
NM_006949.4(STXBP2):c.1299G>A (p.Ala433=) rs542699433 0.00001
NM_006949.4(STXBP2):c.1446A>C (p.Val482=) rs1267281446 0.00001
NM_006949.4(STXBP2):c.1452+17C>T rs866689666 0.00001
NM_006949.4(STXBP2):c.1452+8G>A rs1206831715 0.00001
NM_006949.4(STXBP2):c.1494C>T (p.Phe498=) rs779034135 0.00001
NM_006949.4(STXBP2):c.1515G>T (p.Thr505=) rs369399945 0.00001
NM_006949.4(STXBP2):c.1538+16C>T rs769882636 0.00001
NM_006949.4(STXBP2):c.1538+17G>A rs886038579 0.00001
NM_006949.4(STXBP2):c.1539-5C>A rs772438137 0.00001
NM_006949.4(STXBP2):c.1605C>T (p.Ile535=) rs554112164 0.00001
NM_006949.4(STXBP2):c.169+11G>C rs756350869 0.00001
NM_006949.4(STXBP2):c.1697-9C>T rs777335531 0.00001
NM_006949.4(STXBP2):c.1701C>T (p.Ser567=) rs775267116 0.00001
NM_006949.4(STXBP2):c.246+17G>A rs761135377 0.00001
NM_006949.4(STXBP2):c.294C>T (p.Thr98=) rs764792238 0.00001
NM_006949.4(STXBP2):c.330C>T (p.Cys110=) rs1032960984 0.00001
NM_006949.4(STXBP2):c.38-18C>T rs547035697 0.00001
NM_006949.4(STXBP2):c.408C>T (p.Ala136=) rs751879629 0.00001
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) rs373462454 0.00001
NM_006949.4(STXBP2):c.429+10G>A rs771645875 0.00001
NM_006949.4(STXBP2):c.430-12C>T rs1050331269 0.00001
NM_006949.4(STXBP2):c.430-6G>A rs984557811 0.00001
NM_006949.4(STXBP2):c.453C>T (p.His151=) rs1719856733 0.00001
NM_006949.4(STXBP2):c.546C>G (p.Thr182=) rs1391595886 0.00001
NM_006949.4(STXBP2):c.578+8C>A rs1473440853 0.00001
NM_006949.4(STXBP2):c.578+9C>A rs755913665 0.00001
NM_006949.4(STXBP2):c.630C>T (p.Asn210=) rs201691423 0.00001
NM_006949.4(STXBP2):c.664-19G>A rs374566216 0.00001
NM_006949.4(STXBP2):c.664-20T>C rs1257162911 0.00001
NM_006949.4(STXBP2):c.664-6C>A rs1342749941 0.00001
NM_006949.4(STXBP2):c.72G>C (p.Lys24Asn) rs763288117 0.00001
NM_006949.4(STXBP2):c.750G>A (p.Gln250=) rs146658708 0.00001
NM_006949.4(STXBP2):c.789A>G (p.Thr263=) rs371540379 0.00001
NM_006949.4(STXBP2):c.794+20G>A rs762046938 0.00001
NM_006949.4(STXBP2):c.795-16C>T rs1189996144 0.00001
NM_006949.4(STXBP2):c.795-19C>G rs777370766 0.00001
NM_006949.4(STXBP2):c.879C>T (p.His293=) rs1237529379 0.00001
NM_006949.4(STXBP2):c.88-11C>T rs1355022750 0.00001
NM_006949.4(STXBP2):c.888C>T (p.Ile296=) rs1350527680 0.00001
NM_006949.4(STXBP2):c.902+17A>G rs2031935447 0.00001
NM_006949.4(STXBP2):c.903-19C>T rs762417426 0.00001
NM_006949.4(STXBP2):c.912G>A (p.Thr304=) rs781242568 0.00001
NM_006949.4(STXBP2):c.960+14C>G rs1322085165 0.00001
NM_006949.4(STXBP2):c.960+15A>C rs766105847 0.00001
NM_006949.4(STXBP2):c.1017G>A (p.Glu339=)
NM_006949.4(STXBP2):c.1020G>A (p.Leu340=)
NM_006949.4(STXBP2):c.1026+11G>A
NM_006949.4(STXBP2):c.1026+15G>T
NM_006949.4(STXBP2):c.1026+17A>C rs1171346483
NM_006949.4(STXBP2):c.1026+18G>A
NM_006949.4(STXBP2):c.1026+8C>G
NM_006949.4(STXBP2):c.1027-11G>T
NM_006949.4(STXBP2):c.1027-12T>C rs2146220992
NM_006949.4(STXBP2):c.1027-14C>T
NM_006949.4(STXBP2):c.1027-15C>T
NM_006949.4(STXBP2):c.1027-17C>A
NM_006949.4(STXBP2):c.1027-4G>T
NM_006949.4(STXBP2):c.1027-7C>T
NM_006949.4(STXBP2):c.1027-8C>T
NM_006949.4(STXBP2):c.1035G>A (p.Thr345=)
NM_006949.4(STXBP2):c.1035G>T (p.Thr345=)
NM_006949.4(STXBP2):c.1047A>C (p.Leu349=)
NM_006949.4(STXBP2):c.1050A>G (p.Ala350=)
NM_006949.4(STXBP2):c.1053T>C (p.Asp351=)
NM_006949.4(STXBP2):c.1080G>C (p.Ser360=)
NM_006949.4(STXBP2):c.1092G>A (p.Leu364=)
NM_006949.4(STXBP2):c.1092G>C (p.Leu364=)
NM_006949.4(STXBP2):c.1101G>A (p.Val367=)
NM_006949.4(STXBP2):c.1104G>A (p.Glu368=)
NM_006949.4(STXBP2):c.1107+12_1107+27del rs759584147
NM_006949.4(STXBP2):c.1107+15G>A rs747904049
NM_006949.4(STXBP2):c.1107+17G>A rs374453678
NM_006949.4(STXBP2):c.1107+17G>C
NM_006949.4(STXBP2):c.1107+17G>T
NM_006949.4(STXBP2):c.1107+18G>A
NM_006949.4(STXBP2):c.1107+9G>C rs370755022
NM_006949.4(STXBP2):c.1108-11C>T
NM_006949.4(STXBP2):c.1108-12C>T
NM_006949.4(STXBP2):c.1108-13C>G
NM_006949.4(STXBP2):c.1108-14C>A rs1314091539
NM_006949.4(STXBP2):c.1108-14C>T
NM_006949.4(STXBP2):c.1108-16G>A
NM_006949.4(STXBP2):c.1108-19G>T
NM_006949.4(STXBP2):c.1108-4G>T
NM_006949.4(STXBP2):c.1108-8G>A rs1363310511
NM_006949.4(STXBP2):c.1108-9T>C rs2146226188
NM_006949.4(STXBP2):c.1111C>T (p.Leu371=)
NM_006949.4(STXBP2):c.1122C>T (p.Gly374=) rs2146226286
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) rs755758613
NM_006949.4(STXBP2):c.1140G>A (p.Glu380=) rs2146226397
NM_006949.4(STXBP2):c.1143G>A (p.Lys381=)
NM_006949.4(STXBP2):c.1149G>A (p.Lys383=)
NM_006949.4(STXBP2):c.1167C>A (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) rs139160342
NM_006949.4(STXBP2):c.1170T>C (p.Val390=)
NM_006949.4(STXBP2):c.1177C>T (p.Leu393=)
NM_006949.4(STXBP2):c.1188G>C (p.Ala396=)
NM_006949.4(STXBP2):c.1197C>G (p.Pro399=)
NM_006949.4(STXBP2):c.1200C>T (p.Ala400=)
NM_006949.4(STXBP2):c.1206C>T (p.Asp402=) rs2146226616
NM_006949.4(STXBP2):c.1212C>T (p.Ile404=)
NM_006949.4(STXBP2):c.1215G>T (p.Arg405=)
NM_006949.4(STXBP2):c.1218C>T (p.Val406=)
NM_006949.4(STXBP2):c.1224G>C (p.Leu408=)
NM_006949.4(STXBP2):c.1242G>C (p.Arg414=)
NM_006949.4(STXBP2):c.1246+11G>C
NM_006949.4(STXBP2):c.1246+14G>T
NM_006949.4(STXBP2):c.1246+20A>T
NM_006949.4(STXBP2):c.1247-11C>T
NM_006949.4(STXBP2):c.1247-11_1247-9del
NM_006949.4(STXBP2):c.1247-18C>T
NM_006949.4(STXBP2):c.1247-19G>A
NM_006949.4(STXBP2):c.1247-7C>A
NM_006949.4(STXBP2):c.1247-9G>C
NM_006949.4(STXBP2):c.1260G>A (p.Glu420=)
NM_006949.4(STXBP2):c.1269C>G (p.Ala423=)
NM_006949.4(STXBP2):c.1278C>T (p.Ile426=) rs2032085173
NM_006949.4(STXBP2):c.1281G>A (p.Gln427=)
NM_006949.4(STXBP2):c.129C>G (p.Ser43=)
NM_006949.4(STXBP2):c.12G>C (p.Ser4=) rs1479557498
NM_006949.4(STXBP2):c.1323G>A (p.Leu441=)
NM_006949.4(STXBP2):c.1330C>T (p.Leu444=) rs1283496609
NM_006949.4(STXBP2):c.1335A>T (p.Gly445=) rs2146228454
NM_006949.4(STXBP2):c.1341T>C (p.Thr447=)
NM_006949.4(STXBP2):c.1344C>T (p.Val448=)
NM_006949.4(STXBP2):c.1353C>G (p.Pro451=)
NM_006949.4(STXBP2):c.1356+18A>C
NM_006949.4(STXBP2):c.1356+19T>C
NM_006949.4(STXBP2):c.1356+20G>C
NM_006949.4(STXBP2):c.1356+20G>T
NM_006949.4(STXBP2):c.1357-12C>T rs761759282
NM_006949.4(STXBP2):c.1357-13G>T
NM_006949.4(STXBP2):c.1357-20C>T rs763985652
NM_006949.4(STXBP2):c.1357-4G>A
NM_006949.4(STXBP2):c.1357-4G>C rs1027722042
NM_006949.4(STXBP2):c.1357-6C>T
NM_006949.4(STXBP2):c.1386G>C (p.Pro462=)
NM_006949.4(STXBP2):c.1416G>C (p.Leu472=)
NM_006949.4(STXBP2):c.1428C>G (p.Thr476=) rs756428439
NM_006949.4(STXBP2):c.1428C>T (p.Thr476=)
NM_006949.4(STXBP2):c.1437C>T (p.Ile479=) rs1417576091
NM_006949.4(STXBP2):c.1452+13A>G
NM_006949.4(STXBP2):c.1452+18A>T
NM_006949.4(STXBP2):c.1453-10C>G
NM_006949.4(STXBP2):c.1453-12C>T
NM_006949.4(STXBP2):c.1453-15C>T
NM_006949.4(STXBP2):c.1453-19C>T
NM_006949.4(STXBP2):c.1453-8G>C rs1452988617
NM_006949.4(STXBP2):c.1453-9G>C
NM_006949.4(STXBP2):c.1458C>G (p.Ala486=)
NM_006949.4(STXBP2):c.1464G>A (p.Glu488=)
NM_006949.4(STXBP2):c.1476C>T (p.Asp492=)
NM_006949.4(STXBP2):c.1491C>T (p.Pro497=) rs574613622
NM_006949.4(STXBP2):c.1512C>G (p.Pro504=)
NM_006949.4(STXBP2):c.1512C>T (p.Pro504=)
NM_006949.4(STXBP2):c.1515G>A (p.Thr505=) rs369399945
NM_006949.4(STXBP2):c.1524C>T (p.Ser508=)
NM_006949.4(STXBP2):c.1527G>A (p.Gln509=)
NM_006949.4(STXBP2):c.1530C>G (p.Ala510=) rs755717157
NM_006949.4(STXBP2):c.1538+10C>A
NM_006949.4(STXBP2):c.1538+10C>G rs139200597
NM_006949.4(STXBP2):c.1538+11G>C rs560026431
NM_006949.4(STXBP2):c.1538+12G>C
NM_006949.4(STXBP2):c.1538+12G>T
NM_006949.4(STXBP2):c.1538+14G>A
NM_006949.4(STXBP2):c.1538+18C>G
NM_006949.4(STXBP2):c.1538+19C>T
NM_006949.4(STXBP2):c.1538+21_1538+26del
NM_006949.4(STXBP2):c.1538+7C>G
NM_006949.4(STXBP2):c.1538+9C>T
NM_006949.4(STXBP2):c.1539-11G>T
NM_006949.4(STXBP2):c.1539-14C>G rs2032178636
NM_006949.4(STXBP2):c.1539-15C>T
NM_006949.4(STXBP2):c.1539-16C>T
NM_006949.4(STXBP2):c.1539-18T>C rs2146233772
NM_006949.4(STXBP2):c.1539-20T>C rs779245767
NM_006949.4(STXBP2):c.1539-5C>T
NM_006949.4(STXBP2):c.1551T>A (p.Gly517=)
NM_006949.4(STXBP2):c.1554C>T (p.His518=)
NM_006949.4(STXBP2):c.1575_1576inv (p.Ile526Val)
NM_006949.4(STXBP2):c.1584C>T (p.Ala528=) rs530168896
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln) rs35490401
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.1593C>T (p.Gly531=)
NM_006949.4(STXBP2):c.1596C>T (p.Pro532=)
NM_006949.4(STXBP2):c.1599G>T (p.Arg533=)
NM_006949.4(STXBP2):c.1602C>G (p.Leu534=)
NM_006949.4(STXBP2):c.1608G>A (p.Val536=)
NM_006949.4(STXBP2):c.1611T>C (p.Tyr537=)
NM_006949.4(STXBP2):c.1623T>C (p.Gly541=)
NM_006949.4(STXBP2):c.1659G>T (p.Val553=)
NM_006949.4(STXBP2):c.1662C>G (p.Thr554=) rs1423929519
NM_006949.4(STXBP2):c.169+10C>T rs187240521
NM_006949.4(STXBP2):c.169+11G>A
NM_006949.4(STXBP2):c.169+13_169+17dup rs1568463437
NM_006949.4(STXBP2):c.169+15C>A
NM_006949.4(STXBP2):c.169+16C>T
NM_006949.4(STXBP2):c.169+19_169+44del
NM_006949.4(STXBP2):c.169+20G>C
NM_006949.4(STXBP2):c.1696+13G>C
NM_006949.4(STXBP2):c.1696+14A>G
NM_006949.4(STXBP2):c.1696+15C>T
NM_006949.4(STXBP2):c.1696+16T>C
NM_006949.4(STXBP2):c.1696+9C>T
NM_006949.4(STXBP2):c.1697-12G>A
NM_006949.4(STXBP2):c.1697-16C>G
NM_006949.4(STXBP2):c.1697-17C>T
NM_006949.4(STXBP2):c.1697-4A>T
NM_006949.4(STXBP2):c.1698C>A (p.Gly566=)
NM_006949.4(STXBP2):c.1698C>T (p.Gly566=)
NM_006949.4(STXBP2):c.16C>T (p.Leu6=)
NM_006949.4(STXBP2):c.170-11G>C
NM_006949.4(STXBP2):c.170-13C>A
NM_006949.4(STXBP2):c.170-15C>T
NM_006949.4(STXBP2):c.170-15del
NM_006949.4(STXBP2):c.170-16C>T
NM_006949.4(STXBP2):c.170-18T>C
NM_006949.4(STXBP2):c.170-4C>T rs2146207903
NM_006949.4(STXBP2):c.1710C>T (p.Ile570=)
NM_006949.4(STXBP2):c.1719G>C (p.Pro573=)
NM_006949.4(STXBP2):c.1722C>A (p.Thr574=)
NM_006949.4(STXBP2):c.1746A>G (p.Ala582=)
NM_006949.4(STXBP2):c.180C>T (p.Asp60=)
NM_006949.4(STXBP2):c.21G>A (p.Lys7=) rs2146202594
NM_006949.4(STXBP2):c.229C>T (p.Leu77=)
NM_006949.4(STXBP2):c.237C>T (p.Pro79=)
NM_006949.4(STXBP2):c.246+15G>A
NM_006949.4(STXBP2):c.246+16_246+21del rs759078080
NM_006949.4(STXBP2):c.246+19G>C
NM_006949.4(STXBP2):c.246+9A>G
NM_006949.4(STXBP2):c.247-18G>A
NM_006949.4(STXBP2):c.247-4C>G
NM_006949.4(STXBP2):c.249G>C (p.Ser83=) rs1374023769
NM_006949.4(STXBP2):c.24G>C (p.Ala8=) rs1023607092
NM_006949.4(STXBP2):c.24G>T (p.Ala8=)
NM_006949.4(STXBP2):c.261G>A (p.Leu87=)
NM_006949.4(STXBP2):c.279G>A (p.Gly93=)
NM_006949.4(STXBP2):c.279G>T (p.Gly93=) rs776110816
NM_006949.4(STXBP2):c.27G>A (p.Val9=) rs969393527
NM_006949.4(STXBP2):c.291C>T (p.Phe97=)
NM_006949.4(STXBP2):c.300A>G (p.Lys100=)
NM_006949.4(STXBP2):c.30G>A (p.Val10=) rs1599386198
NM_006949.4(STXBP2):c.30G>C (p.Val10=)
NM_006949.4(STXBP2):c.30G>T (p.Val10=)
NM_006949.4(STXBP2):c.315C>T (p.Phe105=)
NM_006949.4(STXBP2):c.325+20G>A
NM_006949.4(STXBP2):c.325+7G>A
NM_006949.4(STXBP2):c.326-12G>A
NM_006949.4(STXBP2):c.326-15C>G rs1470980370
NM_006949.4(STXBP2):c.326-29C>T
NM_006949.4(STXBP2):c.326-30_326-23del
NM_006949.4(STXBP2):c.326-31G>T
NM_006949.4(STXBP2):c.340C>T (p.Leu114=)
NM_006949.4(STXBP2):c.342G>A (p.Leu114=)
NM_006949.4(STXBP2):c.342G>C (p.Leu114=)
NM_006949.4(STXBP2):c.360C>G (p.Arg120=)
NM_006949.4(STXBP2):c.360C>T (p.Arg120=) rs748808124
NM_006949.4(STXBP2):c.363T>G (p.Ser121=)
NM_006949.4(STXBP2):c.37+14C>T
NM_006949.4(STXBP2):c.37+15G>A
NM_006949.4(STXBP2):c.37+15G>C
NM_006949.4(STXBP2):c.37+18G>C
NM_006949.4(STXBP2):c.37+19C>T
NM_006949.4(STXBP2):c.37+20C>A
NM_006949.4(STXBP2):c.37+20C>T
NM_006949.4(STXBP2):c.37+7G>T rs1229883838
NM_006949.4(STXBP2):c.372A>G (p.Ala124=)
NM_006949.4(STXBP2):c.375G>A (p.Lys125=)
NM_006949.4(STXBP2):c.38-20C>T rs2031666338
NM_006949.4(STXBP2):c.384G>A (p.Lys128=)
NM_006949.4(STXBP2):c.388T>C (p.Leu130=)
NM_006949.4(STXBP2):c.405T>C (p.Leu135=)
NM_006949.4(STXBP2):c.408C>G (p.Ala136=)
NM_006949.4(STXBP2):c.414C>T (p.Leu138=)
NM_006949.4(STXBP2):c.426C>T (p.Ala142=) rs948303875
NM_006949.4(STXBP2):c.429+11G>A
NM_006949.4(STXBP2):c.429+11G>T
NM_006949.4(STXBP2):c.429+13C>G
NM_006949.4(STXBP2):c.429+15C>T
NM_006949.4(STXBP2):c.429+16A>G
NM_006949.4(STXBP2):c.429+9C>G
NM_006949.4(STXBP2):c.429+9C>T
NM_006949.4(STXBP2):c.429+9_429+16del
NM_006949.4(STXBP2):c.430-10C>T
NM_006949.4(STXBP2):c.430-13C>G
NM_006949.4(STXBP2):c.430-15C>G
NM_006949.4(STXBP2):c.430-17G>A
NM_006949.4(STXBP2):c.430-19C>T
NM_006949.4(STXBP2):c.430-7C>T
NM_006949.4(STXBP2):c.430-9C>T
NM_006949.4(STXBP2):c.435C>T (p.Phe145=)
NM_006949.4(STXBP2):c.441C>G (p.Leu147=)
NM_006949.4(STXBP2):c.456C>T (p.Ser152=)
NM_006949.4(STXBP2):c.459C>G (p.Thr153=)
NM_006949.4(STXBP2):c.462C>T (p.Tyr154=) rs2146215800
NM_006949.4(STXBP2):c.468C>T (p.Leu156=)
NM_006949.4(STXBP2):c.477C>G (p.Pro159=)
NM_006949.4(STXBP2):c.498G>A (p.Thr166=) rs566354422
NM_006949.4(STXBP2):c.498G>T (p.Thr166=)
NM_006949.4(STXBP2):c.507C>A (p.Leu169=)
NM_006949.4(STXBP2):c.507C>T (p.Leu169=)
NM_006949.4(STXBP2):c.519C>T (p.Ala173=)
NM_006949.4(STXBP2):c.534G>A (p.Thr178=)
NM_006949.4(STXBP2):c.534G>T (p.Thr178=)
NM_006949.4(STXBP2):c.537G>A (p.Leu179=)
NM_006949.4(STXBP2):c.540C>T (p.Cys180=)
NM_006949.4(STXBP2):c.567C>A (p.Ile189=)
NM_006949.4(STXBP2):c.573C>T (p.Tyr191=)
NM_006949.4(STXBP2):c.578+11_578+16dup
NM_006949.4(STXBP2):c.578+16A>C
NM_006949.4(STXBP2):c.578+17G>A
NM_006949.4(STXBP2):c.578+18C>T
NM_006949.4(STXBP2):c.578+8C>T rs1473440853
NM_006949.4(STXBP2):c.578+9C>G
NM_006949.4(STXBP2):c.579-11C>T
NM_006949.4(STXBP2):c.579-12C>T
NM_006949.4(STXBP2):c.579-6C>T rs375979474
NM_006949.4(STXBP2):c.579-7C>T
NM_006949.4(STXBP2):c.579-8C>T
NM_006949.4(STXBP2):c.615C>T (p.Val205=)
NM_006949.4(STXBP2):c.633C>T (p.Ala211=)
NM_006949.4(STXBP2):c.651C>T (p.Pro217=) rs2146217274
NM_006949.4(STXBP2):c.663+10C>A
NM_006949.4(STXBP2):c.663+11_663+30del rs760537284
NM_006949.4(STXBP2):c.663+12T>A
NM_006949.4(STXBP2):c.663+19G>A
NM_006949.4(STXBP2):c.663+7G>T
NM_006949.4(STXBP2):c.663+8G>T
NM_006949.4(STXBP2):c.663+9G>T
NM_006949.4(STXBP2):c.664-11C>A
NM_006949.4(STXBP2):c.664-13A>T rs2146217548
NM_006949.4(STXBP2):c.664-7A>G
NM_006949.4(STXBP2):c.664-8C>T
NM_006949.4(STXBP2):c.664-9C>T
NM_006949.4(STXBP2):c.678C>G (p.Thr226=)
NM_006949.4(STXBP2):c.678C>T (p.Thr226=)
NM_006949.4(STXBP2):c.688C>T (p.Leu230=)
NM_006949.4(STXBP2):c.693G>A (p.Leu231=) rs2146217766
NM_006949.4(STXBP2):c.6G>A (p.Ala2=)
NM_006949.4(STXBP2):c.6G>T (p.Ala2=)
NM_006949.4(STXBP2):c.708A>G (p.Ala236=)
NM_006949.4(STXBP2):c.714C>T (p.Asp238=)
NM_006949.4(STXBP2):c.723C>T (p.Ser241=)
NM_006949.4(STXBP2):c.726A>G (p.Pro242=)
NM_006949.4(STXBP2):c.730C>T (p.Leu244=)
NM_006949.4(STXBP2):c.741C>G (p.Leu247=)
NM_006949.4(STXBP2):c.753C>T (p.Ala251=)
NM_006949.4(STXBP2):c.794+10C>T
NM_006949.4(STXBP2):c.794+17C>G
NM_006949.4(STXBP2):c.794+17C>T
NM_006949.4(STXBP2):c.794+19C>T
NM_006949.4(STXBP2):c.794+20G>C
NM_006949.4(STXBP2):c.794+8G>A
NM_006949.4(STXBP2):c.794+9A>G
NM_006949.4(STXBP2):c.795-10T>A rs1370953207
NM_006949.4(STXBP2):c.795-15C>T
NM_006949.4(STXBP2):c.795-20G>C
NM_006949.4(STXBP2):c.795-7T>C rs1163565684
NM_006949.4(STXBP2):c.795-8C>T
NM_006949.4(STXBP2):c.804C>T (p.Thr268=)
NM_006949.4(STXBP2):c.807C>T (p.Thr269=)
NM_006949.4(STXBP2):c.810G>A (p.Gly270=) rs775622193
NM_006949.4(STXBP2):c.811C>T (p.Leu271=)
NM_006949.4(STXBP2):c.813G>A (p.Leu271=)
NM_006949.4(STXBP2):c.825G>A (p.Arg275=)
NM_006949.4(STXBP2):c.834C>T (p.Ala278=)
NM_006949.4(STXBP2):c.852C>T (p.Asp284=)
NM_006949.4(STXBP2):c.855T>C (p.Asp285=)
NM_006949.4(STXBP2):c.87+15G>A
NM_006949.4(STXBP2):c.87+16A>G
NM_006949.4(STXBP2):c.87+19G>A
NM_006949.4(STXBP2):c.88-10A>G
NM_006949.4(STXBP2):c.88-12C>T rs748253705
NM_006949.4(STXBP2):c.88-17_88-6del rs781762309
NM_006949.4(STXBP2):c.88-8C>G rs2031682268
NM_006949.4(STXBP2):c.897G>T (p.Val299=)
NM_006949.4(STXBP2):c.902+11A>C rs1033477720
NM_006949.4(STXBP2):c.902+11A>G
NM_006949.4(STXBP2):c.902+13G>A
NM_006949.4(STXBP2):c.902+15G>A
NM_006949.4(STXBP2):c.902+19_902+20insATC
NM_006949.4(STXBP2):c.902+7G>A
NM_006949.4(STXBP2):c.902+8C>T rs763005796
NM_006949.4(STXBP2):c.903-11C>G
NM_006949.4(STXBP2):c.903-11C>T
NM_006949.4(STXBP2):c.903-13C>A
NM_006949.4(STXBP2):c.903-15C>T
NM_006949.4(STXBP2):c.903-16_903-15insT
NM_006949.4(STXBP2):c.903-18G>T
NM_006949.4(STXBP2):c.903-20C>G rs2146219704
NM_006949.4(STXBP2):c.903-5G>A
NM_006949.4(STXBP2):c.903-8A>G
NM_006949.4(STXBP2):c.912G>C (p.Thr304=)
NM_006949.4(STXBP2):c.921G>C (p.Leu307=)
NM_006949.4(STXBP2):c.927C>T (p.Thr309=)
NM_006949.4(STXBP2):c.948G>A (p.Leu316=)
NM_006949.4(STXBP2):c.948G>C (p.Leu316=)
NM_006949.4(STXBP2):c.954G>C (p.Thr318=)
NM_006949.4(STXBP2):c.960+11A>C
NM_006949.4(STXBP2):c.960+13C>G
NM_006949.4(STXBP2):c.960+14C>A
NM_006949.4(STXBP2):c.960+14C>T
NM_006949.4(STXBP2):c.960+16G>A
NM_006949.4(STXBP2):c.960+8C>G
NM_006949.4(STXBP2):c.960+8C>T
NM_006949.4(STXBP2):c.961-13C>G
NM_006949.4(STXBP2):c.961-14C>T rs755986606
NM_006949.4(STXBP2):c.961-15C>T
NM_006949.4(STXBP2):c.961-16C>T
NM_006949.4(STXBP2):c.961-18T>C
NM_006949.4(STXBP2):c.961-4C>T
NM_006949.4(STXBP2):c.961-6C>A
NM_006949.4(STXBP2):c.961-6C>T
NM_006949.4(STXBP2):c.963G>A (p.Ala321=) rs757211999
NM_006949.4(STXBP2):c.981C>T (p.Ser327=)
NM_006949.4(STXBP2):c.984G>A (p.Gln328=)
NM_006949.4(STXBP2):c.987C>T (p.Ile329=) rs1599400075
NM_006949.4(STXBP2):c.996G>A (p.Lys332=)

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