ClinVar Miner

List of variants in gene SPTBN2 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 370
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.4921G>A (p.Ala1641Thr) rs143640999 0.00191
NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp) rs140000699 0.00127
NM_006946.4(SPTBN2):c.4985+12G>A rs199692345 0.00098
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp) rs116099040 0.00074
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210 0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_006946.4(SPTBN2):c.575+17C>T rs369135314 0.00043
NM_006946.4(SPTBN2):c.6765C>T (p.Leu2255=) rs142769916 0.00041
NM_006946.4(SPTBN2):c.4594-7T>C rs150454036 0.00037
NM_006946.4(SPTBN2):c.3671A>G (p.Asn1224Ser) rs139077453 0.00035
NM_006946.4(SPTBN2):c.2973G>A (p.Leu991=) rs150889747 0.00031
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_006946.4(SPTBN2):c.1482G>T (p.Glu494Asp) rs372109002 0.00030
NM_006946.4(SPTBN2):c.6940-14C>A rs189152678 0.00030
NM_006946.4(SPTBN2):c.4418T>C (p.Leu1473Ser) rs146137419 0.00029
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_006946.4(SPTBN2):c.4800G>A (p.Ala1600=) rs146007976 0.00024
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=) rs376219874 0.00021
NM_006946.4(SPTBN2):c.3749G>A (p.Arg1250Gln) rs145948524 0.00021
NM_006946.4(SPTBN2):c.2495G>A (p.Arg832Gln) rs749281906 0.00020
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp) rs142378119 0.00020
NM_006946.4(SPTBN2):c.5984G>A (p.Arg1995His) rs139107445 0.00019
NM_006946.4(SPTBN2):c.168A>G (p.Glu56=) rs145112518 0.00018
NM_006946.4(SPTBN2):c.4634C>T (p.Ala1545Val) rs150801133 0.00018
NM_006946.4(SPTBN2):c.5088G>A (p.Leu1696=) rs369435626 0.00017
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln) rs375601930 0.00016
NM_006946.4(SPTBN2):c.3804G>A (p.Gln1268=) rs143537378 0.00016
NM_006946.4(SPTBN2):c.5495T>G (p.Leu1832Arg) rs202081167 0.00016
NM_006946.4(SPTBN2):c.6798G>A (p.Ala2266=) rs140748364 0.00016
NM_006946.4(SPTBN2):c.2455C>T (p.Arg819Cys) rs141021167 0.00014
NM_006946.4(SPTBN2):c.3963A>G (p.Ala1321=) rs142480868 0.00014
NM_006946.4(SPTBN2):c.4485C>T (p.Arg1495=) rs145930414 0.00014
NM_006946.4(SPTBN2):c.6572C>T (p.Pro2191Leu) rs199880827 0.00014
NM_006946.4(SPTBN2):c.1350+17C>T rs201869697 0.00013
NM_006946.4(SPTBN2):c.2238C>T (p.Ala746=) rs555186039 0.00013
NM_006946.4(SPTBN2):c.4022G>A (p.Arg1341Gln) rs149992317 0.00013
NM_006946.4(SPTBN2):c.2022C>T (p.Thr674=) rs377439463 0.00012
NM_006946.4(SPTBN2):c.5310C>G (p.Ala1770=) rs142489577 0.00012
NM_006946.4(SPTBN2):c.5658C>T (p.Ala1886=) rs199624385 0.00012
NM_006946.4(SPTBN2):c.2459C>T (p.Thr820Met) rs548188891 0.00011
NM_006946.4(SPTBN2):c.310-12G>A rs373735852 0.00011
NM_006946.4(SPTBN2):c.5099G>A (p.Arg1700His) rs141457344 0.00011
NM_006946.4(SPTBN2):c.5339A>G (p.Asn1780Ser) rs375849761 0.00011
NM_006946.4(SPTBN2):c.6114C>T (p.Ser2038=) rs140580417 0.00011
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_006946.4(SPTBN2):c.774C>T (p.Asp258=) rs139240091 0.00011
NM_006946.4(SPTBN2):c.2382G>A (p.Glu794=) rs368173749 0.00010
NM_006946.4(SPTBN2):c.4046A>C (p.Glu1349Ala) rs140585577 0.00010
NM_006946.4(SPTBN2):c.4985+20G>A rs367688012 0.00010
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690 0.00010
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=) rs150837212 0.00009
NM_006946.4(SPTBN2):c.2262C>T (p.Ala754=) rs368022952 0.00009
NM_006946.4(SPTBN2):c.249C>T (p.Ser83=) rs141552965 0.00009
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His) rs377663856 0.00009
NM_006946.4(SPTBN2):c.3347G>A (p.Arg1116Gln) rs372569008 0.00009
NM_006946.4(SPTBN2):c.3397C>T (p.Arg1133Trp) rs200427839 0.00009
NM_006946.4(SPTBN2):c.6940-11T>C rs551276248 0.00009
NM_006946.4(SPTBN2):c.1351-8C>T rs753293444 0.00008
NM_006946.4(SPTBN2):c.2934C>G (p.Thr978=) rs777698637 0.00008
NM_006946.4(SPTBN2):c.5383C>G (p.Gln1795Glu) rs144465703 0.00008
NM_006946.4(SPTBN2):c.5692G>A (p.Ala1898Thr) rs759505522 0.00008
NM_006946.4(SPTBN2):c.5950-9C>T rs554781314 0.00008
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val) rs751351000 0.00007
NM_006946.4(SPTBN2):c.1914G>A (p.Glu638=) rs367863277 0.00007
NM_006946.4(SPTBN2):c.2097C>T (p.Leu699=) rs944357366 0.00007
NM_006946.4(SPTBN2):c.5474C>T (p.Pro1825Leu) rs140642213 0.00007
NM_006946.4(SPTBN2):c.6501+13G>C rs188366722 0.00007
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys) rs147422843 0.00006
NM_006946.4(SPTBN2):c.1653+13C>T rs376349935 0.00006
NM_006946.4(SPTBN2):c.1922G>A (p.Arg641Gln) rs553463768 0.00006
NM_006946.4(SPTBN2):c.2944G>A (p.Glu982Lys) rs777790247 0.00006
NM_006946.4(SPTBN2):c.2967C>T (p.Asn989=) rs761027154 0.00006
NM_006946.4(SPTBN2):c.3693C>T (p.Leu1231=) rs768135548 0.00006
NM_006946.4(SPTBN2):c.4233C>T (p.Tyr1411=) rs151331478 0.00006
NM_006946.4(SPTBN2):c.4445G>A (p.Arg1482Gln) rs769576700 0.00006
NM_006946.4(SPTBN2):c.4450C>T (p.Leu1484=) rs139883853 0.00006
NM_006946.4(SPTBN2):c.4479C>T (p.Phe1493=) rs781708778 0.00006
NM_006946.4(SPTBN2):c.5151G>T (p.Ala1717=) rs750383616 0.00006
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00006
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=) rs371535973 0.00006
NM_006946.4(SPTBN2):c.6755G>A (p.Arg2252His) rs529514462 0.00006
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His) rs767775507 0.00005
NM_006946.4(SPTBN2):c.2727C>T (p.Thr909=) rs373647590 0.00005
NM_006946.4(SPTBN2):c.3167G>A (p.Arg1056His) rs374715276 0.00005
NM_006946.4(SPTBN2):c.4120G>A (p.Ala1374Thr) rs199675740 0.00005
NM_006946.4(SPTBN2):c.5394C>T (p.Ala1798=) rs764744589 0.00005
NM_006946.4(SPTBN2):c.6296C>A (p.Pro2099His) rs144563313 0.00005
NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=) rs374787500 0.00004
NM_006946.4(SPTBN2):c.1653+14G>A rs373412651 0.00004
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp) rs773155491 0.00004
NM_006946.4(SPTBN2):c.2208C>T (p.Ala736=) rs776575685 0.00004
NM_006946.4(SPTBN2):c.2535G>A (p.Ala845=) rs754302613 0.00004
NM_006946.4(SPTBN2):c.261C>T (p.Asp87=) rs748129999 0.00004
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys) rs761263852 0.00004
NM_006946.4(SPTBN2):c.342C>T (p.His114=) rs370442239 0.00004
NM_006946.4(SPTBN2):c.3795C>T (p.Asp1265=) rs141779130 0.00004
NM_006946.4(SPTBN2):c.4396G>A (p.Val1466Met) rs763193925 0.00004
NM_006946.4(SPTBN2):c.5060G>A (p.Arg1687Gln) rs763770499 0.00004
NM_006946.4(SPTBN2):c.5314G>A (p.Val1772Met) rs200189497 0.00004
NM_006946.4(SPTBN2):c.5424C>T (p.His1808=) rs113551867 0.00004
NM_006946.4(SPTBN2):c.5583C>T (p.Asp1861=) rs557448224 0.00004
NM_006946.4(SPTBN2):c.5696G>A (p.Arg1899His) rs201017398 0.00004
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His) rs145750214 0.00004
NM_006946.4(SPTBN2):c.6600C>T (p.Thr2200=) rs368974603 0.00004
NM_006946.4(SPTBN2):c.6929C>T (p.Ala2310Val) rs749226138 0.00004
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp) rs564046722 0.00004
NM_006946.4(SPTBN2):c.1159C>T (p.Arg387Cys) rs1002318320 0.00003
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) rs772590586 0.00003
NM_006946.4(SPTBN2):c.1524C>T (p.Asn508=) rs774837229 0.00003
NM_006946.4(SPTBN2):c.1807+18G>T rs1051536154 0.00003
NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=) rs774265056 0.00003
NM_006946.4(SPTBN2):c.2331C>T (p.His777=) rs746800875 0.00003
NM_006946.4(SPTBN2):c.2817-8G>T rs142540439 0.00003
NM_006946.4(SPTBN2):c.3448C>T (p.Leu1150=) rs374741931 0.00003
NM_006946.4(SPTBN2):c.4855-9T>A rs945895488 0.00003
NM_006946.4(SPTBN2):c.4971C>T (p.His1657=) rs758734822 0.00003
NM_006946.4(SPTBN2):c.575+11C>T rs373469801 0.00003
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=) rs373276784 0.00003
NM_006946.4(SPTBN2):c.5983C>T (p.Arg1995Cys) rs374895441 0.00003
NM_006946.4(SPTBN2):c.6378C>T (p.Thr2126=) rs770472919 0.00003
NM_006946.4(SPTBN2):c.6642G>A (p.Glu2214=) rs373673230 0.00003
NM_006946.4(SPTBN2):c.1201C>T (p.Arg401Trp) rs746994330 0.00002
NM_006946.4(SPTBN2):c.1929C>G (p.Leu643=) rs747355437 0.00002
NM_006946.4(SPTBN2):c.2444C>T (p.Pro815Leu) rs750520015 0.00002
NM_006946.4(SPTBN2):c.2679-13T>C rs746235555 0.00002
NM_006946.4(SPTBN2):c.3468G>A (p.Glu1156=) rs749647878 0.00002
NM_006946.4(SPTBN2):c.4554G>A (p.Lys1518=) rs773275271 0.00002
NM_006946.4(SPTBN2):c.4644G>T (p.Arg1548Ser) rs1393713562 0.00002
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His) rs764884402 0.00002
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys) rs754809056 0.00002
NM_006946.4(SPTBN2):c.5220C>T (p.Ser1740=) rs773962214 0.00002
NM_006946.4(SPTBN2):c.525G>A (p.Lys175=) rs745617041 0.00002
NM_006946.4(SPTBN2):c.5399C>T (p.Ala1800Val) rs367960697 0.00002
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys) rs149317715 0.00002
NM_006946.4(SPTBN2):c.5782C>T (p.Leu1928=) rs753810616 0.00002
NM_006946.4(SPTBN2):c.5901C>T (p.Ile1967=) rs200009167 0.00002
NM_006946.4(SPTBN2):c.6063T>G (p.Asp2021Glu) rs748137168 0.00002
NM_006946.4(SPTBN2):c.6135C>T (p.Val2045=) rs751575277 0.00002
NM_006946.4(SPTBN2):c.6450+9A>G rs765623506 0.00002
NM_006946.4(SPTBN2):c.6513A>C (p.Ser2171=) rs770250825 0.00002
NM_006946.4(SPTBN2):c.6535C>T (p.Arg2179Trp) rs764921928 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His) rs201138924 0.00002
NM_006946.4(SPTBN2):c.6906T>C (p.Asp2302=) rs774217655 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_006946.4(SPTBN2):c.7083C>T (p.Val2361=) rs200262256 0.00002
NM_006946.4(SPTBN2):c.7119C>T (p.Asp2373=) rs1213201129 0.00002
NM_006946.4(SPTBN2):c.1074-16C>T rs376361557 0.00001
NM_006946.4(SPTBN2):c.1155G>A (p.Thr385=) rs773673472 0.00001
NM_006946.4(SPTBN2):c.117G>A (p.Ser39=) rs142080780 0.00001
NM_006946.4(SPTBN2):c.1191+17A>G rs763505286 0.00001
NM_006946.4(SPTBN2):c.1192-5C>T rs910982125 0.00001
NM_006946.4(SPTBN2):c.1251C>T (p.Leu417=) rs764726747 0.00001
NM_006946.4(SPTBN2):c.1290C>T (p.Phe430=) rs538691061 0.00001
NM_006946.4(SPTBN2):c.1350+11A>C rs1243519992 0.00001
NM_006946.4(SPTBN2):c.1563C>T (p.Ala521=) rs370685694 0.00001
NM_006946.4(SPTBN2):c.1571G>A (p.Arg524Gln) rs1478933802 0.00001
NM_006946.4(SPTBN2):c.1998A>G (p.Ser666=) rs750192032 0.00001
NM_006946.4(SPTBN2):c.2001C>T (p.Ala667=) rs767441529 0.00001
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met) rs775522542 0.00001
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His) rs372938259 0.00001
NM_006946.4(SPTBN2):c.2399G>A (p.Arg800Gln) rs144746828 0.00001
NM_006946.4(SPTBN2):c.2412C>T (p.Asp804=) rs770555771 0.00001
NM_006946.4(SPTBN2):c.2460G>A (p.Thr820=) rs776096922 0.00001
NM_006946.4(SPTBN2):c.2536C>T (p.Arg846Trp) rs766885350 0.00001
NM_006946.4(SPTBN2):c.2558C>T (p.Ala853Val) rs773989387 0.00001
NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=) rs758091474 0.00001
NM_006946.4(SPTBN2):c.2733G>C (p.Val911=) rs1298209002 0.00001
NM_006946.4(SPTBN2):c.2817-7C>G rs779776319 0.00001
NM_006946.4(SPTBN2):c.297G>A (p.Ser99=) rs762103483 0.00001
NM_006946.4(SPTBN2):c.3012G>A (p.Thr1004=) rs184505447 0.00001
NM_006946.4(SPTBN2):c.3037G>A (p.Ala1013Thr) rs148016656 0.00001
NM_006946.4(SPTBN2):c.3355A>C (p.Ser1119Arg) rs760806416 0.00001
NM_006946.4(SPTBN2):c.3517G>A (p.Gly1173Ser) rs372841640 0.00001
NM_006946.4(SPTBN2):c.3528A>T (p.Gly1176=) rs761875807 0.00001
NM_006946.4(SPTBN2):c.3678A>G (p.Glu1226=) rs754224313 0.00001
NM_006946.4(SPTBN2):c.3736G>A (p.Ala1246Thr) rs138526888 0.00001
NM_006946.4(SPTBN2):c.3738C>T (p.Ala1246=) rs779091056 0.00001
NM_006946.4(SPTBN2):c.4065G>A (p.Ser1355=) rs1017072990 0.00001
NM_006946.4(SPTBN2):c.4137C>G (p.Leu1379=) rs761964666 0.00001
NM_006946.4(SPTBN2):c.4560G>A (p.Leu1520=) rs775472534 0.00001
NM_006946.4(SPTBN2):c.4620T>C (p.His1540=) rs772520856 0.00001
NM_006946.4(SPTBN2):c.4655G>A (p.Arg1552His) rs182094691 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_006946.4(SPTBN2):c.4986-5T>G rs1371679359 0.00001
NM_006946.4(SPTBN2):c.507A>G (p.Thr169=) rs1168416493 0.00001
NM_006946.4(SPTBN2):c.5313C>T (p.Thr1771=) rs769523801 0.00001
NM_006946.4(SPTBN2):c.5319C>T (p.Ala1773=) rs780991267 0.00001
NM_006946.4(SPTBN2):c.5811-8C>G rs1263966941 0.00001
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys) rs200529832 0.00001
NM_006946.4(SPTBN2):c.6255A>G (p.Arg2085=) rs1202370651 0.00001
NM_006946.4(SPTBN2):c.6265A>T (p.Arg2089Trp) rs890981545 0.00001
NM_006946.4(SPTBN2):c.6293C>T (p.Pro2098Leu) rs571837788 0.00001
NM_006946.4(SPTBN2):c.6343G>A (p.Gly2115Ser) rs200435710 0.00001
NM_006946.4(SPTBN2):c.6541G>A (p.Glu2181Lys) rs186129774 0.00001
NM_006946.4(SPTBN2):c.6703G>A (p.Gly2235Arg) rs772594172 0.00001
NM_006946.4(SPTBN2):c.6723-4G>A rs766376475 0.00001
NM_006946.4(SPTBN2):c.6723-5C>T rs537586567 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_006946.4(SPTBN2):c.6868C>A (p.Arg2290=) rs769316991 0.00001
NM_006946.4(SPTBN2):c.6990G>A (p.Ala2330=) rs372297351 0.00001
NM_006946.4(SPTBN2):c.72C>T (p.Asn24=) rs1168986724 0.00001
NM_006946.4(SPTBN2):c.913C>T (p.Arg305Cys) rs372293906 0.00001
NM_006946.4(SPTBN2):c.1073+12T>A
NM_006946.4(SPTBN2):c.1152C>T (p.Tyr384=)
NM_006946.4(SPTBN2):c.1191+12C>G
NM_006946.4(SPTBN2):c.1215G>A (p.Ala405=)
NM_006946.4(SPTBN2):c.122G>A (p.Arg41His)
NM_006946.4(SPTBN2):c.1245C>T (p.Thr415=)
NM_006946.4(SPTBN2):c.1341C>G (p.Leu447=)
NM_006946.4(SPTBN2):c.1341C>T (p.Leu447=)
NM_006946.4(SPTBN2):c.1351-12C>T
NM_006946.4(SPTBN2):c.1458C>T (p.Ala486=)
NM_006946.4(SPTBN2):c.1569G>A (p.Arg523=)
NM_006946.4(SPTBN2):c.158-8C>T rs768464832
NM_006946.4(SPTBN2):c.1626C>T (p.Tyr542=)
NM_006946.4(SPTBN2):c.1647G>A (p.Glu549=) rs1590953093
NM_006946.4(SPTBN2):c.1807+18G>A rs1051536154
NM_006946.4(SPTBN2):c.1808-11G>A
NM_006946.4(SPTBN2):c.1808-13G>A
NM_006946.4(SPTBN2):c.1812T>C (p.Tyr604=)
NM_006946.4(SPTBN2):c.1845G>A (p.Arg615=)
NM_006946.4(SPTBN2):c.1878G>A (p.Leu626=)
NM_006946.4(SPTBN2):c.1898G>A (p.Arg633Gln)
NM_006946.4(SPTBN2):c.18A>G (p.Ser6=) rs2135559572
NM_006946.4(SPTBN2):c.1924C>A (p.Arg642=)
NM_006946.4(SPTBN2):c.2002G>A (p.Asp668Asn)
NM_006946.4(SPTBN2):c.2256C>T (p.Phe752=) rs780850736
NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=) rs766115824
NM_006946.4(SPTBN2):c.2493G>A (p.Glu831=)
NM_006946.4(SPTBN2):c.2518C>T (p.Arg840Trp)
NM_006946.4(SPTBN2):c.2559G>A (p.Ala853=)
NM_006946.4(SPTBN2):c.2565C>T (p.Tyr855=)
NM_006946.4(SPTBN2):c.2581G>T (p.Ala861Ser)
NM_006946.4(SPTBN2):c.2583C>T (p.Ala861=)
NM_006946.4(SPTBN2):c.2661G>C (p.Leu887=)
NM_006946.4(SPTBN2):c.2679-9C>T
NM_006946.4(SPTBN2):c.2728G>T (p.Ala910Ser) rs766328275
NM_006946.4(SPTBN2):c.2733G>T (p.Val911=)
NM_006946.4(SPTBN2):c.2771C>A (p.Pro924Gln) rs147327184
NM_006946.4(SPTBN2):c.2817-13C>T
NM_006946.4(SPTBN2):c.3051A>G (p.Glu1017=)
NM_006946.4(SPTBN2):c.3082G>A (p.Gly1028Ser)
NM_006946.4(SPTBN2):c.3099A>G (p.Ala1033=) rs112739946
NM_006946.4(SPTBN2):c.3163C>A (p.Arg1055=) rs138022806
NM_006946.4(SPTBN2):c.3174A>G (p.Glu1058=) rs1590936888
NM_006946.4(SPTBN2):c.3186G>A (p.Gly1062=)
NM_006946.4(SPTBN2):c.3192G>A (p.Ala1064=)
NM_006946.4(SPTBN2):c.3279G>A (p.Gly1093=)
NM_006946.4(SPTBN2):c.3288C>A (p.Thr1096=)
NM_006946.4(SPTBN2):c.3291G>A (p.Leu1097=)
NM_006946.4(SPTBN2):c.3385G>A (p.Glu1129Lys)
NM_006946.4(SPTBN2):c.3398G>A (p.Arg1133Gln)
NM_006946.4(SPTBN2):c.3453A>T (p.Gly1151=) rs768932281
NM_006946.4(SPTBN2):c.3573+10dup
NM_006946.4(SPTBN2):c.3735C>T (p.His1245=)
NM_006946.4(SPTBN2):c.3801G>C (p.Ala1267=) rs776179938
NM_006946.4(SPTBN2):c.3817C>T (p.Arg1273Cys)
NM_006946.4(SPTBN2):c.3818G>A (p.Arg1273His)
NM_006946.4(SPTBN2):c.3850C>T (p.Leu1284=) rs2135399480
NM_006946.4(SPTBN2):c.3858T>C (p.Asp1286=)
NM_006946.4(SPTBN2):c.3867+20C>T
NM_006946.4(SPTBN2):c.3924G>A (p.Glu1308=)
NM_006946.4(SPTBN2):c.3987C>T (p.Asn1329=)
NM_006946.4(SPTBN2):c.4014+16G>A
NM_006946.4(SPTBN2):c.4015-12C>T rs1940925070
NM_006946.4(SPTBN2):c.4086C>G (p.His1362Gln)
NM_006946.4(SPTBN2):c.411C>G (p.Gly137=)
NM_006946.4(SPTBN2):c.4165G>T (p.Ala1389Ser)
NM_006946.4(SPTBN2):c.429C>T (p.Asp143=)
NM_006946.4(SPTBN2):c.4389G>C (p.Ser1463=)
NM_006946.4(SPTBN2):c.4395C>T (p.Ala1465=)
NM_006946.4(SPTBN2):c.4467G>A (p.Glu1489=) rs1462220071
NM_006946.4(SPTBN2):c.4486G>A (p.Asp1496Asn)
NM_006946.4(SPTBN2):c.4527C>G (p.Pro1509=) rs2135364761
NM_006946.4(SPTBN2):c.4539C>T (p.Ser1513=) rs572124467
NM_006946.4(SPTBN2):c.4545G>A (p.Glu1515=)
NM_006946.4(SPTBN2):c.4605A>G (p.Lys1535=)
NM_006946.4(SPTBN2):c.4773G>A (p.Gln1591=)
NM_006946.4(SPTBN2):c.4782C>T (p.Tyr1594=) rs887943856
NM_006946.4(SPTBN2):c.484-17GCTT[3]
NM_006946.4(SPTBN2):c.4851C>T (p.Ala1617=)
NM_006946.4(SPTBN2):c.4854+18G>A rs2135357893
NM_006946.4(SPTBN2):c.4944G>A (p.Ala1648=) rs371267330
NM_006946.4(SPTBN2):c.4944G>C (p.Ala1648=)
NM_006946.4(SPTBN2):c.4956G>A (p.Gln1652=)
NM_006946.4(SPTBN2):c.4985+19C>T
NM_006946.4(SPTBN2):c.5056C>T (p.Arg1686Trp) rs368373337
NM_006946.4(SPTBN2):c.5059C>T (p.Arg1687Trp)
NM_006946.4(SPTBN2):c.5103C>T (p.Arg1701=)
NM_006946.4(SPTBN2):c.5115C>T (p.Asp1705=)
NM_006946.4(SPTBN2):c.5166G>T (p.Leu1722=)
NM_006946.4(SPTBN2):c.5190+16_5190+17insA
NM_006946.4(SPTBN2):c.5250C>T (p.Arg1750=)
NM_006946.4(SPTBN2):c.5265T>C (p.Asn1755=)
NM_006946.4(SPTBN2):c.5305C>T (p.Arg1769Trp)
NM_006946.4(SPTBN2):c.5400G>A (p.Ala1800=)
NM_006946.4(SPTBN2):c.5403C>T (p.Tyr1801=)
NM_006946.4(SPTBN2):c.5475G>T (p.Pro1825=) rs34806527
NM_006946.4(SPTBN2):c.54G>T (p.Gln18His)
NM_006946.4(SPTBN2):c.5565+8C>G
NM_006946.4(SPTBN2):c.5566-13C>T
NM_006946.4(SPTBN2):c.5566-16A>C
NM_006946.4(SPTBN2):c.5566-4G>A
NM_006946.4(SPTBN2):c.5566-5C>T
NM_006946.4(SPTBN2):c.5652C>T (p.Ala1884=)
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu) rs148293687
NM_006946.4(SPTBN2):c.5688T>C (p.Ser1896=)
NM_006946.4(SPTBN2):c.5704C>T (p.Leu1902=)
NM_006946.4(SPTBN2):c.5718C>T (p.Thr1906=)
NM_006946.4(SPTBN2):c.5732G>A (p.Arg1911His)
NM_006946.4(SPTBN2):c.575+7A>C
NM_006946.4(SPTBN2):c.575+7_575+8insAGTGC
NM_006946.4(SPTBN2):c.5811-5C>T
NM_006946.4(SPTBN2):c.5811-8C>T rs1263966941
NM_006946.4(SPTBN2):c.5825C>T (p.Ala1942Val)
NM_006946.4(SPTBN2):c.5899A>G (p.Ile1967Val)
NM_006946.4(SPTBN2):c.5902G>A (p.Asp1968Asn)
NM_006946.4(SPTBN2):c.5925C>G (p.Ala1975=) rs1940411398
NM_006946.4(SPTBN2):c.5936A>G (p.Tyr1979Cys)
NM_006946.4(SPTBN2):c.5943C>A (p.Ala1981=)
NM_006946.4(SPTBN2):c.5949+7G>A rs1334736609
NM_006946.4(SPTBN2):c.5961G>A (p.Lys1987=)
NM_006946.4(SPTBN2):c.6035-11G>A
NM_006946.4(SPTBN2):c.6111C>T (p.Arg2037=)
NM_006946.4(SPTBN2):c.6131C>T (p.Thr2044Met)
NM_006946.4(SPTBN2):c.6213G>C (p.Ala2071=) rs779482257
NM_006946.4(SPTBN2):c.6213G>T (p.Ala2071=)
NM_006946.4(SPTBN2):c.621T>C (p.Asp207=)
NM_006946.4(SPTBN2):c.6232-14_6232-12del rs1276673306
NM_006946.4(SPTBN2):c.6241C>A (p.Arg2081=)
NM_006946.4(SPTBN2):c.6273G>A (p.Glu2091=)
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln)
NM_006946.4(SPTBN2):c.6304G>A (p.Glu2102Lys)
NM_006946.4(SPTBN2):c.6357T>C (p.Ser2119=)
NM_006946.4(SPTBN2):c.6374+19G>C
NM_006946.4(SPTBN2):c.6374+20G>T
NM_006946.4(SPTBN2):c.6374+7G>A
NM_006946.4(SPTBN2):c.6394C>T (p.Pro2132Ser)
NM_006946.4(SPTBN2):c.639C>T (p.Ala213=)
NM_006946.4(SPTBN2):c.6493G>A (p.Glu2165Lys)
NM_006946.4(SPTBN2):c.6501+14dup
NM_006946.4(SPTBN2):c.6501+18T>C
NM_006946.4(SPTBN2):c.6502-5C>A
NM_006946.4(SPTBN2):c.656+13G>A rs1457051378
NM_006946.4(SPTBN2):c.656+8G>A
NM_006946.4(SPTBN2):c.657-10C>G
NM_006946.4(SPTBN2):c.6675G>A (p.Leu2225=)
NM_006946.4(SPTBN2):c.6723-13G>A
NM_006946.4(SPTBN2):c.6754C>T (p.Arg2252Cys)
NM_006946.4(SPTBN2):c.6766G>A (p.Gly2256Ser)
NM_006946.4(SPTBN2):c.6875G>A (p.Arg2292His)
NM_006946.4(SPTBN2):c.6953C>T (p.Ser2318Leu)
NM_006946.4(SPTBN2):c.699A>T (p.Ala233=)
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)
NM_006946.4(SPTBN2):c.7065G>A (p.Met2355Ile)
NM_006946.4(SPTBN2):c.7068C>T (p.Pro2356=)
NM_006946.4(SPTBN2):c.7080C>T (p.Pro2360=)
NM_006946.4(SPTBN2):c.7084G>A (p.Gly2362Arg)
NM_006946.4(SPTBN2):c.7090G>A (p.Glu2364Lys)
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=)
NM_006946.4(SPTBN2):c.791C>A (p.Pro264Gln)
NM_006946.4(SPTBN2):c.916C>T (p.Leu306=)
NM_006946.4(SPTBN2):c.933G>A (p.Glu311=)
NM_006946.4(SPTBN2):c.93G>A (p.Ser31=)
NM_006946.4(SPTBN2):c.957G>A (p.Gln319=)

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