ClinVar Miner

List of variants in gene SBF2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 205
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.4156-183T>A rs10770066 0.90371
NM_030962.4(SBF2):c.3979-148T>C rs4910066 0.84353
NM_030962.4(SBF2):c.3979-173G>C rs4910506 0.84350
NM_030962.4(SBF2):c.*1364C>T rs10118 0.63186
NM_030962.4(SBF2):c.1167+165_1167+166dup rs60479663 0.52386
NM_030962.4(SBF2):c.3978+152T>C rs7937716 0.52057
NM_030962.4(SBF2):c.1711-158dup rs35824679 0.50850
NM_030962.4(SBF2):c.976-248T>C rs11042583 0.47427
NM_030962.4(SBF2):c.4156-46C>T rs11042500 0.43551
NM_030962.4(SBF2):c.1710+287T>A rs7933475 0.38544
NM_030962.4(SBF2):c.56-64G>A rs4910097 0.36543
NM_030962.4(SBF2):c.*514C>T rs3829252 0.33836
NM_030962.4(SBF2):c.*1515G>A rs1045634 0.33338
NM_030962.4(SBF2):c.*40A>C rs3751000 0.30738
NM_030962.4(SBF2):c.3653-288G>A rs67554498 0.29993
NM_030962.4(SBF2):c.3653-233C>T rs16907122 0.28385
NM_030962.4(SBF2):c.141+275G>A rs11042662 0.27240
NM_030962.4(SBF2):c.1711-84G>A rs2403226 0.27044
NM_030962.4(SBF2):c.4155+91T>C rs4910065 0.22785
NM_030962.4(SBF2):c.514-53A>T rs10840344 0.20311
NM_030962.4(SBF2):c.620-75T>C rs10500716 0.20242
NM_030962.4(SBF2):c.753-16T>A rs7128234 0.18140
NM_030962.4(SBF2):c.1711-85C>T rs7117364 0.11378
NM_030962.4(SBF2):c.1601-327T>C rs72855680 0.11195
NM_030962.4(SBF2):c.1860+58A>G rs61876983 0.11186
NM_030962.4(SBF2):c.619+247G>A rs61877046 0.10706
NM_030962.4(SBF2):c.141+286A>G rs11042661 0.10576
NM_030962.4(SBF2):c.1601-307G>A rs72855678 0.10531
NM_030962.4(SBF2):c.56-262T>A rs61892572 0.10331
NM_030962.4(SBF2):c.619+205T>C rs72858826 0.10052
NM_030962.4(SBF2):c.619+199C>T rs72858828 0.10029
NM_030962.4(SBF2):c.3456-145T>C rs12578023 0.08202
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_030962.4(SBF2):c.1395+80T>G rs11826263 0.07170
NM_030962.4(SBF2):c.*1619A>C rs360126 0.06509
NM_030962.4(SBF2):c.909C>T (p.Pro303=) rs16907355 0.05858
NM_030962.4(SBF2):c.1167+75G>T rs56223901 0.05837
NM_030962.4(SBF2):c.1296+193T>C rs72857155 0.05569
NM_030962.4(SBF2):c.1296+290G>A rs72857152 0.05293
NM_030962.4(SBF2):c.1167+74C>T rs78399419 0.05228
NM_030962.4(SBF2):c.*1144A>G rs3751001 0.04623
NM_030962.4(SBF2):c.3979-256C>T rs139479293 0.02070
NM_030962.4(SBF2):c.141+258C>T rs185107978 0.02013
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.01896
NM_030962.4(SBF2):c.1601-274C>T rs12276925 0.01802
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_030962.4(SBF2):c.1395+74C>T rs34611271 0.01516
NM_030962.4(SBF2):c.862-254A>T rs117107002 0.01381
NM_030962.4(SBF2):c.1396-87G>A rs114180283 0.01271
NM_030962.4(SBF2):c.280-193G>A rs141773803 0.01226
NM_030962.4(SBF2):c.1167+64G>T rs60333011 0.01221
NM_030962.4(SBF2):c.1860+101A>G rs16907298 0.01202
NM_030962.4(SBF2):c.403-315G>A rs73410824 0.01176
NM_030962.4(SBF2):c.403-82A>G rs73410823 0.01173
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.00986
NM_030962.4(SBF2):c.3793+235T>A rs74578546 0.00947
NM_030962.4(SBF2):c.1296+32A>G rs73406739 0.00891
NM_030962.4(SBF2):c.*177A>C rs192542785 0.00872
NM_030962.4(SBF2):c.4155+191A>G rs80166633 0.00858
NM_030962.4(SBF2):c.1711-327G>A rs56393596 0.00821
NM_030962.4(SBF2):c.*51T>C rs41275194 0.00718
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00706
NM_030962.4(SBF2):c.1860+73T>A rs74997924 0.00696
NM_030962.4(SBF2):c.753-80C>T rs140138632 0.00685
NM_030962.4(SBF2):c.1296+296A>G rs182844619 0.00649
NM_030962.4(SBF2):c.1167+57C>T rs139290061 0.00641
NM_030962.4(SBF2):c.619+11570G>C rs142733781 0.00602
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00516
NM_030962.4(SBF2):c.-118G>T rs563422015 0.00491
NM_030962.4(SBF2):c.56-219T>C rs76617958 0.00488
NM_030962.4(SBF2):c.862-99A>C rs145988551 0.00472
NM_030962.4(SBF2):c.645T>C (p.Phe215=) rs148187321 0.00451
NM_030962.4(SBF2):c.3652+201T>A rs112355769 0.00446
NC_000011.10:g.10294293C>G rs553137073 0.00408
NM_030962.4(SBF2):c.280-122A>T rs182780882 0.00394
NM_030962.4(SBF2):c.1296+149C>T rs192948025 0.00388
NC_000011.10:g.10294362G>C rs537734020 0.00383
NM_030962.4(SBF2):c.55+138C>T rs570399998 0.00383
NM_030962.4(SBF2):c.753-333A>G rs574226051 0.00383
NM_030962.4(SBF2):c.1168-145C>T rs188819573 0.00381
NM_030962.4(SBF2):c.3653-203T>A rs185605599 0.00357
NM_030962.4(SBF2):c.1053+122A>G rs145969395 0.00352
NM_030962.4(SBF2):c.975+317C>T rs114839239 0.00342
NM_030962.4(SBF2):c.*112G>A rs144513995 0.00198
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00113
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_030962.4(SBF2):c.4111G>C (p.Val1371Leu) rs149501654 0.00069
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=) rs77833016 0.00063
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00056
NM_030962.4(SBF2):c.291G>A (p.Lys97=) rs150056369 0.00036
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=) rs145351367 0.00030
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00021
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=) rs147597665 0.00016
NM_030962.4(SBF2):c.514-12C>T rs770141264 0.00016
NM_030962.4(SBF2):c.1812C>T (p.Asp604=) rs765658939 0.00015
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004 0.00014
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp) rs146366305 0.00012
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=) rs142904756 0.00011
NM_030962.4(SBF2):c.4257+6C>G rs370274486 0.00008
NM_030962.4(SBF2):c.946C>T (p.Leu316=) rs374841593 0.00008
NM_030962.4(SBF2):c.1436G>A (p.Arg479Gln) rs775059182 0.00007
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334 0.00007
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His) rs201249004 0.00006
NM_030962.4(SBF2):c.3877A>G (p.Lys1293Glu) rs200594508 0.00006
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala) rs147350002 0.00006
NM_030962.4(SBF2):c.1210C>T (p.Leu404Phe) rs764058215 0.00005
NM_030962.4(SBF2):c.4156C>G (p.Leu1386Val) rs771436343 0.00005
NM_030962.4(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271 0.00005
NM_030962.4(SBF2):c.1067G>A (p.Arg356Gln) rs188588431 0.00004
NM_030962.4(SBF2):c.129G>A (p.Gln43=) rs761285505 0.00004
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln) rs878855130 0.00004
NM_030962.4(SBF2):c.3865C>T (p.Arg1289Trp) rs145107442 0.00004
NM_030962.4(SBF2):c.4038C>G (p.Ile1346Met) rs752638300 0.00004
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=) rs766353139 0.00004
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His) rs770619905 0.00004
NM_030962.4(SBF2):c.5452-16T>C rs202053502 0.00004
NM_030962.4(SBF2):c.5493T>C (p.Asp1831=) rs779051883 0.00004
NM_030962.4(SBF2):c.257A>G (p.Tyr86Cys) rs745669920 0.00003
NM_030962.4(SBF2):c.4127C>T (p.Ala1376Val) rs922840746 0.00003
NM_030962.4(SBF2):c.56G>T (p.Gly19Val) rs375560902 0.00003
NM_030962.4(SBF2):c.1327G>C (p.Val443Leu) rs765958389 0.00002
NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr) rs753626252 0.00002
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359 0.00002
NM_030962.4(SBF2):c.1054-9T>C rs765023759 0.00001
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg) rs770153492 0.00001
NM_030962.4(SBF2):c.1341C>G (p.Asn447Lys) rs764407015 0.00001
NM_030962.4(SBF2):c.1409C>G (p.Pro470Arg) rs774536466 0.00001
NM_030962.4(SBF2):c.1420T>C (p.Phe474Leu) rs794727133 0.00001
NM_030962.4(SBF2):c.1576G>C (p.Val526Leu) rs771998889 0.00001
NM_030962.4(SBF2):c.1604C>T (p.Ser535Leu) rs542028180 0.00001
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu) rs201806063 0.00001
NM_030962.4(SBF2):c.1770T>C (p.Asp590=) rs149269991 0.00001
NM_030962.4(SBF2):c.1804A>G (p.Ile602Val) rs751375939 0.00001
NM_030962.4(SBF2):c.3615C>T (p.Val1205=) rs751734412 0.00001
NM_030962.4(SBF2):c.3823C>T (p.Arg1275Cys) rs956737183 0.00001
NM_030962.4(SBF2):c.3841A>G (p.Thr1281Ala) rs1320584263 0.00001
NM_030962.4(SBF2):c.3931A>G (p.Lys1311Glu) rs200167746 0.00001
NM_030962.4(SBF2):c.3976A>C (p.Arg1326=) rs928249984 0.00001
NM_030962.4(SBF2):c.3979-5C>T rs771787085 0.00001
NM_030962.4(SBF2):c.4209T>C (p.Gly1403=) rs765140117 0.00001
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr) rs370601742 0.00001
NM_030962.4(SBF2):c.497C>T (p.Ala166Val) rs137913031 0.00001
NM_030962.4(SBF2):c.520T>C (p.Phe174Leu) rs200004527 0.00001
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484 0.00001
NM_030962.4(SBF2):c.87G>C (p.Gln29His) rs751336040 0.00001
NM_030962.4(SBF2):c.936A>G (p.Pro312=) rs765770300 0.00001
GRCh37/hg19 11p15.4(chr11:9855084-10001441)x1
GRCh37/hg19 11p15.4(chr11:9855606-10003249)x1
GRCh37/hg19 11p15.4(chr11:9913339-9933626)x1
NM_030962.4(SBF2):c.1053+2T>C rs1554977189
NM_030962.4(SBF2):c.1054-293_1054-286dup rs11281911
NM_030962.4(SBF2):c.1072G>C (p.Val358Leu)
NM_030962.4(SBF2):c.1103A>G (p.Gln368Arg) rs1947510624
NM_030962.4(SBF2):c.1159T>C (p.Phe387Leu) rs1247599264
NM_030962.4(SBF2):c.1395+8_1395+11del rs763174480
NM_030962.4(SBF2):c.1396-295T>C rs77182089
NM_030962.4(SBF2):c.142-14dup rs530695547
NM_030962.4(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.4(SBF2):c.1498C>G (p.Arg500Gly) rs146366305
NM_030962.4(SBF2):c.1601-2A>G rs113702075
NM_030962.4(SBF2):c.1601-309C>T rs187222593
NM_030962.4(SBF2):c.1615A>G (p.Lys539Glu) rs775279773
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met) rs372109447
NM_030962.4(SBF2):c.1710+181_1710+184dup rs530782404
NM_030962.4(SBF2):c.1711-266A>C rs7110027
NM_030962.4(SBF2):c.211A>G (p.Thr71Ala) rs1590822270
NM_030962.4(SBF2):c.304G>T (p.Gly102Cys) rs879253916
NM_030962.4(SBF2):c.3456-5T>A rs1371166879
NM_030962.4(SBF2):c.3632C>A (p.Ser1211Tyr) rs1356162033
NM_030962.4(SBF2):c.3652+6C>T rs1057524041
NM_030962.4(SBF2):c.3652+9CT[2] rs376260584
NM_030962.4(SBF2):c.3653-76GATA[6] rs143416649
NM_030962.4(SBF2):c.3741A>C (p.Lys1247Asn) rs1855252886
NM_030962.4(SBF2):c.3766G>C (p.Val1256Leu) rs2494684862
NM_030962.4(SBF2):c.3966G>C (p.Lys1322Asn) rs1310958792
NM_030962.4(SBF2):c.403-335dup rs533328520
NM_030962.4(SBF2):c.4070T>C (p.Met1357Thr) rs1554907847
NM_030962.4(SBF2):c.4144T>G (p.Trp1382Gly) rs2494618884
NM_030962.4(SBF2):c.4257+1G>A rs876661288
NM_030962.4(SBF2):c.4315C>T (p.Gln1439Ter) rs879253988
NM_030962.4(SBF2):c.4443+224C>G rs17353206
NM_030962.4(SBF2):c.4444-212dup rs11416768
NM_030962.4(SBF2):c.463C>A (p.Leu155Ile) rs1057524731
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.4(SBF2):c.513+297G>A rs181190005
NM_030962.4(SBF2):c.513G>A (p.Gln171=) rs2496376445
NM_030962.4(SBF2):c.525T>C (p.Ser175=) rs2134627335
NM_030962.4(SBF2):c.548T>A (p.Leu183Ter) rs1554990103
NM_030962.4(SBF2):c.5548_*4del (p.Ter1850HisextTer?)
NM_030962.4(SBF2):c.56-182A>G rs4515960
NM_030962.4(SBF2):c.619+1G>A rs1565150234
NM_030962.4(SBF2):c.752+245_752+246insTTTTAACTGTA rs150124583
NM_030962.4(SBF2):c.766C>A (p.Pro256Thr) rs879253987
NM_030962.4(SBF2):c.827T>C (p.Val276Ala) rs778206706
NM_030962.4(SBF2):c.861+308C>A rs73408778
NM_030962.4(SBF2):c.861+5G>C rs879253963
NM_030962.4(SBF2):c.862-238A>G rs2896515
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys) rs781039677
NM_030962.4(SBF2):c.975+3A>G rs1947797052
NM_030962.4(SBF2):c.976-195C>T rs537420042

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