ClinVar Miner

List of variants in gene SPTBN2 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 445
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.6035-82G>A rs117394165 0.02435
NM_006946.4(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855 0.01604
NM_006946.4(SPTBN2):c.1192-124C>T rs114909410 0.01352
NM_006946.4(SPTBN2):c.6232-36A>G rs79774424 0.01213
NM_006946.4(SPTBN2):c.5191-111T>G rs115016940 0.01177
NM_006946.4(SPTBN2):c.158-218_158-217insAAA rs201358632 0.01176
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_006946.4(SPTBN2):c.234G>A (p.Val78=) rs78309877 0.01155
NM_006946.4(SPTBN2):c.1011T>G (p.Leu337=) rs34275473 0.01154
NM_006946.4(SPTBN2):c.2678+208C>G rs77000671 0.01154
NM_006946.4(SPTBN2):c.484-124G>A rs114691024 0.01151
NM_006946.4(SPTBN2):c.158-153T>C rs9666734 0.01143
NM_006946.4(SPTBN2):c.483+51C>T rs115917700 0.00980
NM_006946.4(SPTBN2):c.5565+58C>T rs112961673 0.00966
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_006946.4(SPTBN2):c.4014+135T>C rs115645857 0.00874
NM_006946.4(SPTBN2):c.310-121G>A rs76318577 0.00871
NM_006946.4(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199 0.00819
NM_006946.4(SPTBN2):c.309+127G>A rs11828633 0.00765
NM_006946.4(SPTBN2):c.4279-28A>T rs116705466 0.00757
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_006946.4(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603 0.00477
NM_006946.4(SPTBN2):c.6099G>A (p.Glu2033=) rs150696057 0.00458
NM_006946.4(SPTBN2):c.2503G>A (p.Glu835Lys) rs36054877 0.00433
NM_006946.4(SPTBN2):c.1161C>T (p.Arg387=) rs74909073 0.00352
NM_006946.4(SPTBN2):c.5950-8G>A rs201759431 0.00277
NM_006946.4(SPTBN2):c.1416G>A (p.Thr472=) rs145249947 0.00245
NM_006946.4(SPTBN2):c.1068G>A (p.Pro356=) rs150080880 0.00239
NM_006946.4(SPTBN2):c.1221C>T (p.His407=) rs143596433 0.00212
NM_006946.4(SPTBN2):c.4921G>A (p.Ala1641Thr) rs143640999 0.00191
NM_006946.4(SPTBN2):c.2526C>T (p.Gly842=) rs144939155 0.00173
NM_006946.4(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566 0.00168
NM_006946.4(SPTBN2):c.2816+22C>T rs116441572 0.00160
NM_006946.4(SPTBN2):c.3111C>T (p.Asn1037=) rs149124496 0.00145
NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp) rs140000699 0.00127
NM_006946.4(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321 0.00102
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=) rs143083152 0.00100
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.2904G>A (p.Thr968=) rs143948660 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.3885C>T (p.Asp1295=) rs146526805 0.00053
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.6813C>T (p.His2271=) rs545082298 0.00016
NM_006946.4(SPTBN2):c.768C>T (p.Pro256=) rs201821131 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.406A>G (p.Met136Val) rs150610657 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.3431G>A (p.Arg1144Gln) rs558572111 0.00011
NM_006946.4(SPTBN2):c.3707G>A (p.Arg1236His) rs372553453 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.3194G>A (p.Arg1065Gln) rs753324919 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.1014C>T (p.Ser338=) rs138740917 0.00004
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.6213G>A (p.Ala2071=) rs779482257 0.00004
NM_006946.4(SPTBN2):c.6470G>A (p.Arg2157Lys) rs376920607 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.7034C>A (p.Thr2345Asn) rs770261235 0.00004
NM_006946.4(SPTBN2):c.924G>C (p.Glu308Asp) rs564046722 0.00004
NM_006946.4(SPTBN2):c.964G>A (p.Glu322Lys) rs759451802 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.1768G>A (p.Val590Ile) rs780059779 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.3801G>A (p.Ala1267=) rs776179938 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.5736C>G (p.Phe1912Leu) rs202247290 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.945G>A (p.Ser315=) rs758056414 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.2463C>T (p.Pro821=) rs946307634 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.3717A>G (p.Val1239=) rs369017203 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.1836G>A (p.Val612=) rs770762674 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.3453A>G (p.Gly1151=) rs768932281 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.4279-8G>A rs369614446 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.5892C>T (p.Ser1964=) rs968815191 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.6294G>A (p.Pro2098=) rs139653351 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.855C>A (p.Ala285=) rs373123134 0.00001
NM_006946.4(SPTBN2):c.913C>T (p.Arg305Cys) rs372293906 0.00001
NM_006946.4(SPTBN2):c.963C>T (p.Ile321=) rs1456985458 0.00001
NM_006946.4(SPTBN2):c.1073+112A>G rs114793940
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.1351-7G>T rs116078747
NM_006946.4(SPTBN2):c.1458C>T (p.Ala486=)
NM_006946.4(SPTBN2):c.1491C>T (p.His497=)
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.1807+60G>A
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.2679-149A>T
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.3057T>A (p.Thr1019=) rs141552726
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.3492G>T (p.Arg1164=)
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.4251C>T (p.Ser1417=)
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>A (p.Ala1884=)
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.612C>T (p.Ser204=)
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.6232-39C>T
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.657-70G>A
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=)

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.