ClinVar Miner

List of variants in gene SBF2 studied for not provided

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Gene type:
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Total variants: 121
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HGVS dbSNP
GRCh37/hg19 11p15.4(chr11:10129950-10211233)x1
GRCh37/hg19 11p15.4(chr11:9855084-10001441)x1
GRCh37/hg19 11p15.4(chr11:9913339-9933626)x1
GRCh37/hg19 11p15.4(chr11:9938475-9942432)x1
GRCh37/hg19 11p15.4(chr11:9938475-9944824)x1
NC_000011.10:g.9832210_9832211del rs376260584
NM_030962.3(SBF2):c.1053+2T>C rs1554977189
NM_030962.3(SBF2):c.1054-9T>C rs765023759
NM_030962.3(SBF2):c.1159T>C (p.Phe387Leu) rs1247599264
NM_030962.3(SBF2):c.1167+74C>T rs78399419
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.1296+296A>G rs182844619
NM_030962.3(SBF2):c.1327G>C (p.Val443Leu) rs765958389
NM_030962.3(SBF2):c.1341C>G (p.Asn447Lys) rs764407015
NM_030962.3(SBF2):c.136G>C (p.Glu46Gln) rs878855130
NM_030962.3(SBF2):c.1395+8_1395+11del rs763174480
NM_030962.3(SBF2):c.1396-295T>C rs77182089
NM_030962.3(SBF2):c.141+258C>T rs185107978
NM_030962.3(SBF2):c.1420T>C (p.Phe474Leu) rs794727133
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1434A>G (p.Pro478=) rs946519735
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1569G>A (p.Lys523=) rs776951161
NM_030962.3(SBF2):c.1584A>G (p.Pro528=) rs778311686
NM_030962.3(SBF2):c.1593A>G (p.Pro531=) rs1245602198
NM_030962.3(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.3(SBF2):c.1711-158dup rs35824679
NM_030962.3(SBF2):c.1711-84G>A rs2403226
NM_030962.3(SBF2):c.1804A>G (p.Ile602Val) rs751375939
NM_030962.3(SBF2):c.1839G>A (p.Arg613=) rs776414901
NM_030962.3(SBF2):c.192G>A (p.Thr64=) rs763363470
NM_030962.3(SBF2):c.211A>G (p.Thr71Ala) rs1590822270
NM_030962.3(SBF2):c.257A>G (p.Tyr86Cys) rs745669920
NM_030962.3(SBF2):c.280-193G>A rs141773803
NM_030962.3(SBF2):c.304G>T (p.Gly102Cys) rs879253916
NM_030962.3(SBF2):c.3456-145T>C rs12578023
NM_030962.3(SBF2):c.3540G>C (p.Leu1180=) rs766137744
NM_030962.3(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334
NM_030962.3(SBF2):c.3582C>T (p.Leu1194=) rs201514622
NM_030962.3(SBF2):c.3615C>T (p.Val1205=) rs751734412
NM_030962.3(SBF2):c.3653-233C>T rs16907122
NM_030962.3(SBF2):c.3653-288G>A rs67554498
NM_030962.3(SBF2):c.3708A>G (p.Gln1236=) rs1371647333
NM_030962.3(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3824G>A (p.Arg1275His) rs150028248
NM_030962.3(SBF2):c.3831C>G (p.Ile1277Met) rs139522696
NM_030962.3(SBF2):c.3865C>T (p.Arg1289Trp) rs145107442
NM_030962.3(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523
NM_030962.3(SBF2):c.3969G>A (p.Ser1323=) rs77833016
NM_030962.3(SBF2):c.3976A>C (p.Arg1326=) rs928249984
NM_030962.3(SBF2):c.3978+152T>C rs7937716
NM_030962.3(SBF2):c.3979-148T>C rs4910066
NM_030962.3(SBF2):c.3979-173G>C rs4910506
NM_030962.3(SBF2):c.3979-4G>A rs375742620
NM_030962.3(SBF2):c.402+5A>G rs1060503800
NM_030962.3(SBF2):c.4070T>C (p.Met1357Thr) rs1554907847
NM_030962.3(SBF2):c.409C>T (p.Leu137=) rs200954150
NM_030962.3(SBF2):c.4107A>C (p.Ser1369=) rs769205402
NM_030962.3(SBF2):c.4113G>A (p.Val1371=) rs1195911510
NM_030962.3(SBF2):c.4128G>A (p.Ala1376=) rs191964053
NM_030962.3(SBF2):c.4155+91T>C rs4910065
NM_030962.3(SBF2):c.4156-183T>A rs10770066
NM_030962.3(SBF2):c.4156-46C>T rs11042500
NM_030962.3(SBF2):c.4156C>G (p.Leu1386Val) rs771436343
NM_030962.3(SBF2):c.4257+1G>A rs876661288
NM_030962.3(SBF2):c.4315C>T (p.Gln1439Ter) rs879253988
NM_030962.3(SBF2):c.4443+224C>G rs17353206
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271
NM_030962.3(SBF2):c.463C>A (p.Leu155Ile) rs1057524731
NM_030962.3(SBF2):c.4640G>A (p.Arg1547Lys) rs200338241
NM_030962.3(SBF2):c.4666T>C (p.Phe1556Leu) rs189911105
NM_030962.3(SBF2):c.4699-150G>T rs11042496
NM_030962.3(SBF2):c.4699-9C>A rs376668219
NM_030962.3(SBF2):c.4760C>G (p.Thr1587Ser) rs1554900597
NM_030962.3(SBF2):c.4779C>A (p.Ser1593=) rs1054455232
NM_030962.3(SBF2):c.4799C>G (p.Thr1600Ser) rs183468503
NM_030962.3(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.3(SBF2):c.4920C>T (p.Thr1640=) rs1222175198
NM_030962.3(SBF2):c.4932+216G>A rs360132
NM_030962.3(SBF2):c.4932+224C>T rs360131
NM_030962.3(SBF2):c.4932+65C>T rs360133
NM_030962.3(SBF2):c.4933-215G>A rs4910505
NM_030962.3(SBF2):c.5007G>A (p.Val1669=) rs918725972
NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del) rs750958357
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5038-57CAGT[3] rs71453928
NM_030962.3(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522
NM_030962.3(SBF2):c.5055G>A (p.Ser1685=) rs375798441
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.5112A>G (p.Leu1704=) rs370420894
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_030962.3(SBF2):c.513+297G>A rs181190005
NM_030962.3(SBF2):c.514-12C>T rs770141264
NM_030962.3(SBF2):c.514-53A>T rs10840344
NM_030962.3(SBF2):c.5169T>C (p.Asn1723=) rs1452599195
NM_030962.3(SBF2):c.5254_5255insTTAT (p.Lys1752fs) rs1064793771
NM_030962.3(SBF2):c.5319+113del rs10709701
NM_030962.3(SBF2):c.5319+52C>T rs35103525
NM_030962.3(SBF2):c.5320-209A>G rs117688622
NM_030962.3(SBF2):c.5451+102T>G rs3763862
NM_030962.3(SBF2):c.5451+2T>G rs886042830
NM_030962.3(SBF2):c.5452-165C>G rs360124
NM_030962.3(SBF2):c.5484C>T (p.Cys1828=) rs149571145
NM_030962.3(SBF2):c.548T>A (p.Leu183Ter) rs1554990103
NM_030962.3(SBF2):c.56-64G>A rs4910097
NM_030962.3(SBF2):c.56-8A>C rs369979138
NM_030962.3(SBF2):c.600T>C (p.Ala200=) rs770433606
NM_030962.3(SBF2):c.600T>G (p.Ala200=) rs770433606
NM_030962.3(SBF2):c.616T>C (p.Leu206=) rs1590791206
NM_030962.3(SBF2):c.619+1G>A rs1565150234
NM_030962.3(SBF2):c.766C>A (p.Pro256Thr) rs879253987
NM_030962.3(SBF2):c.774C>A (p.Leu258=) rs887509504
NM_030962.3(SBF2):c.827T>C (p.Val276Ala) rs778206706
NM_030962.3(SBF2):c.861+5G>C rs879253963
NM_030962.3(SBF2):c.862-99A>C rs145988551
NM_030962.3(SBF2):c.87G>C (p.Gln29His) rs751336040
NM_030962.3(SBF2):c.976-248T>C rs11042583
NM_030962.3(SBF2):c.984C>T (p.His328=) rs367717680

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