ClinVar Miner

List of variants in gene SBF2

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 328
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HGVS dbSNP
GRCh37/hg19 11p15.4(chr11:10129950-10211233)x1
GRCh37/hg19 11p15.4(chr11:9938475-9942432)x1
GRCh37/hg19 11p15.4(chr11:9938475-9944824)x1
NC_000011.10:g.9832210_9832211del
NC_000011.9:g.(?_10049989)_(10215544_?)del
NC_000011.9:g.(?_10215449)_(10215534_?)del
NM_030962.3(SBF2):c.*112G>A rs144513995
NM_030962.3(SBF2):c.*1144A>G rs3751001
NM_030962.3(SBF2):c.*1255G>A rs886048774
NM_030962.3(SBF2):c.*1364C>T rs10118
NM_030962.3(SBF2):c.*1399T>C rs60154961
NM_030962.3(SBF2):c.*1413A>G rs59613534
NM_030962.3(SBF2):c.*1439C>A rs531522907
NM_030962.3(SBF2):c.*1441C>T rs562275980
NM_030962.3(SBF2):c.*1515G>A rs1045634
NM_030962.3(SBF2):c.*1619A>C rs360126
NM_030962.3(SBF2):c.*1686G>A rs376521838
NM_030962.3(SBF2):c.*177A>C rs192542785
NM_030962.3(SBF2):c.*19G>A rs770446132
NM_030962.3(SBF2):c.*20C>G rs1057523279
NM_030962.3(SBF2):c.*291C>T rs114604750
NM_030962.3(SBF2):c.*375G>A rs533676532
NM_030962.3(SBF2):c.*375G>C rs533676532
NM_030962.3(SBF2):c.*40A>C rs3751000
NM_030962.3(SBF2):c.*480G>A rs148002177
NM_030962.3(SBF2):c.*514C>T rs3829252
NM_030962.3(SBF2):c.*51T>C rs41275194
NM_030962.3(SBF2):c.*631T>C rs573284772
NM_030962.3(SBF2):c.*730G>A rs886048777
NM_030962.3(SBF2):c.*875G>A rs886048776
NM_030962.3(SBF2):c.*882T>C rs886048775
NM_030962.3(SBF2):c.-101A>C rs886047577
NM_030962.3(SBF2):c.-106C>T rs886047578
NM_030962.3(SBF2):c.-118G>T rs563422015
NM_030962.3(SBF2):c.-128C>T rs886047579
NM_030962.3(SBF2):c.-37G>T rs756232914
NM_030962.3(SBF2):c.1024C>T (p.Arg342Ter) rs1565106242
NM_030962.3(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.3(SBF2):c.1053+2T>C rs1554977189
NM_030962.3(SBF2):c.1054-11T>C rs1554976748
NM_030962.3(SBF2):c.1061A>C (p.Glu354Ala) rs761829741
NM_030962.3(SBF2):c.1066C>T (p.Arg356Ter)
NM_030962.3(SBF2):c.1067G>A (p.Arg356Gln) rs188588431
NM_030962.3(SBF2):c.1071C>T (p.Ala357=) rs775272908
NM_030962.3(SBF2):c.109G>C (p.Asp37His) rs759977048
NM_030962.3(SBF2):c.1124A>G (p.Gln375Arg) rs770153492
NM_030962.3(SBF2):c.1130T>C (p.Ile377Thr)
NM_030962.3(SBF2):c.1130T>G (p.Ile377Arg) rs371432409
NM_030962.3(SBF2):c.1159T>C (p.Phe387Leu) rs1247599264
NM_030962.3(SBF2):c.1164C>T (p.His388=) rs959559753
NM_030962.3(SBF2):c.1167+74C>T
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.1183C>A (p.Gln395Lys)
NM_030962.3(SBF2):c.1222C>G (p.Leu408Val) rs1220835376
NM_030962.3(SBF2):c.1226G>T (p.Ser409Ile) rs1183650459
NM_030962.3(SBF2):c.1273A>C (p.Arg425=) rs1554976504
NM_030962.3(SBF2):c.1296+296A>G
NM_030962.3(SBF2):c.1296+7C>T rs774033750
NM_030962.3(SBF2):c.1297-2A>G
NM_030962.3(SBF2):c.1297-6T>C rs1554975593
NM_030962.3(SBF2):c.129G>A (p.Gln43=) rs761285505
NM_030962.3(SBF2):c.1327G>C (p.Val443Leu) rs765958389
NM_030962.3(SBF2):c.1333G>A (p.Glu445Lys) rs1565100821
NM_030962.3(SBF2):c.1337A>G (p.Asn446Ser)
NM_030962.3(SBF2):c.136G>C (p.Glu46Gln) rs878855130
NM_030962.3(SBF2):c.1395+8_1395+11delAGTA rs763174480
NM_030962.3(SBF2):c.1396-295T>C
NM_030962.3(SBF2):c.1396-6T>C rs369973804
NM_030962.3(SBF2):c.141+258C>T
NM_030962.3(SBF2):c.141+9T>A rs760322801
NM_030962.3(SBF2):c.1414A>G (p.Met472Val)
NM_030962.3(SBF2):c.142-11A>G rs539146891
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.1459C>A (p.Arg487=) rs120074139
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.3(SBF2):c.1499G>A (p.Arg500Gln)
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1519G>A (p.Glu507Lys) rs139217120
NM_030962.3(SBF2):c.1537C>T (p.Gln513Ter)
NM_030962.3(SBF2):c.1559G>A (p.Arg520Gln)
NM_030962.3(SBF2):c.1569G>A (p.Lys523=) rs776951161
NM_030962.3(SBF2):c.1573T>C (p.Cys525Arg) rs746860317
NM_030962.3(SBF2):c.1594C>T (p.Pro532Ser) rs1001858508
NM_030962.3(SBF2):c.1600G>C (p.Val534Leu)
NM_030962.3(SBF2):c.1601-4C>G rs886048784
NM_030962.3(SBF2):c.1610T>C (p.Met537Thr) rs1278738726
NM_030962.3(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.3(SBF2):c.1711-158dupG
NM_030962.3(SBF2):c.1711-84G>A
NM_030962.3(SBF2):c.1768G>A (p.Asp590Asn) rs1565064376
NM_030962.3(SBF2):c.1799G>A (p.Arg600Gln) rs185968327
NM_030962.3(SBF2):c.1804A>G (p.Ile602Val) rs751375939
NM_030962.3(SBF2):c.1812C>T (p.Asp604=) rs765658939
NM_030962.3(SBF2):c.1860+10A>G rs778305149
NM_030962.3(SBF2):c.190A>G (p.Thr64Ala)
NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) rs1270869520
NM_030962.3(SBF2):c.215A>C (p.Asp72Ala) rs1060500000
NM_030962.3(SBF2):c.21C>T (p.Tyr7=) rs1555111778
NM_030962.3(SBF2):c.23T>G (p.Phe8Cys) rs886047576
NM_030962.3(SBF2):c.257A>G (p.Tyr86Cys) rs745669920
NM_030962.3(SBF2):c.257A>T (p.Tyr86Phe) rs745669920
NM_030962.3(SBF2):c.279+4C>A
NM_030962.3(SBF2):c.280-193G>A
NM_030962.3(SBF2):c.280-5T>C rs368118378
NM_030962.3(SBF2):c.291G>A (p.Lys97=) rs150056369
NM_030962.3(SBF2):c.304G>T (p.Gly102Cys) rs879253916
NM_030962.3(SBF2):c.313A>G (p.Lys105Glu)
NM_030962.3(SBF2):c.3456-145T>C
NM_030962.3(SBF2):c.3457T>C (p.Tyr1153His) rs1060499998
NM_030962.3(SBF2):c.3466C>T (p.Leu1156Phe) rs1433995523
NM_030962.3(SBF2):c.3479C>T (p.Pro1160Leu)
NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter)
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.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.3(SBF2):c.3587G>A (p.Arg1196Gln)
NM_030962.3(SBF2):c.3602A>G (p.His1201Arg) rs869312970
NM_030962.3(SBF2):c.3617T>C (p.Val1206Ala) rs766573319
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
NM_030962.3(SBF2):c.3651C>T (p.Ala1217=) rs550913752
NM_030962.3(SBF2):c.3652+6C>T rs1057524041
NM_030962.3(SBF2):c.3653-233C>T
NM_030962.3(SBF2):c.3653-288G>A
NM_030962.3(SBF2):c.3712T>A (p.Leu1238Ile) rs1564890006
NM_030962.3(SBF2):c.3745A>G (p.Arg1249Gly) rs1554914278
NM_030962.3(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004
NM_030962.3(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.3(SBF2):c.3794-5T>C rs750041384
NM_030962.3(SBF2):c.3812G>A (p.Arg1271His)
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030962.3(SBF2):c.3823C>G (p.Arg1275Gly)
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.3837T>G (p.Ser1279=) rs1554909254
NM_030962.3(SBF2):c.3843A>G (p.Thr1281=) rs147597665
NM_030962.3(SBF2):c.3857T>C (p.Val1286Ala) rs869312963
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.3871G>C (p.Ala1291Pro)
NM_030962.3(SBF2):c.3877A>G (p.Lys1293Glu) rs200594508
NM_030962.3(SBF2):c.3887C>T (p.Ser1296Leu)
NM_030962.3(SBF2):c.3888G>A (p.Ser1296=) rs375669985
NM_030962.3(SBF2):c.389C>T (p.Pro130Leu) rs1201147678
NM_030962.3(SBF2):c.38A>C (p.Tyr13Ser)
NM_030962.3(SBF2):c.3931A>G (p.Lys1311Glu)
NM_030962.3(SBF2):c.3935G>A (p.Arg1312Gln)
NM_030962.3(SBF2):c.3938A>G (p.Gln1313Arg) rs1554909178
NM_030962.3(SBF2):c.3976A>C (p.Arg1326=) rs928249984
NM_030962.3(SBF2):c.3978+152T>C
NM_030962.3(SBF2):c.3979-148T>C
NM_030962.3(SBF2):c.3979-173G>C
NM_030962.3(SBF2):c.3979-4G>T rs375742620
NM_030962.3(SBF2):c.3989T>C (p.Val1330Ala) rs147350002
NM_030962.3(SBF2):c.402+15G>A rs780717348
NM_030962.3(SBF2):c.402+5A>G rs1060503800
NM_030962.3(SBF2):c.403-15T>G rs887143579
NM_030962.3(SBF2):c.4038C>G (p.Ile1346Met)
NM_030962.3(SBF2):c.4068G>A (p.Leu1356=) rs1429589073
NM_030962.3(SBF2):c.4070T>C (p.Met1357Thr) rs1554907847
NM_030962.3(SBF2):c.4076C>T (p.Ala1359Val) rs368839717
NM_030962.3(SBF2):c.4095C>T (p.Ile1365=) rs142904756
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4102G>A (p.Asp1368Asn)
NM_030962.3(SBF2):c.4107A>C (p.Ser1369=) rs769205402
NM_030962.3(SBF2):c.4120C>G (p.Leu1374Val) rs746286799
NM_030962.3(SBF2):c.4128G>A (p.Ala1376=) rs191964053
NM_030962.3(SBF2):c.4155+91T>C
NM_030962.3(SBF2):c.4156-183T>A
NM_030962.3(SBF2):c.4156-46C>T
NM_030962.3(SBF2):c.4156C>G (p.Leu1386Val) rs771436343
NM_030962.3(SBF2):c.415T>G (p.Leu139Val) rs146361949
NM_030962.3(SBF2):c.4204A>C (p.Asn1402His)
NM_030962.3(SBF2):c.4257+1G>A rs876661288
NM_030962.3(SBF2):c.4263A>G (p.Thr1421=) rs368381654
NM_030962.3(SBF2):c.427G>A (p.Val143Met) rs142469360
NM_030962.3(SBF2):c.4299G>C (p.Arg1433Ser)
NM_030962.3(SBF2):c.4315C>T (p.Gln1439Ter) rs879253988
NM_030962.3(SBF2):c.4335G>A (p.Glu1445=) rs1370306059
NM_030962.3(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359
NM_030962.3(SBF2):c.4420C>G (p.Gln1474Glu)
NM_030962.3(SBF2):c.4443+1G>A rs1564872328
NM_030962.3(SBF2):c.4443+1G>C
NM_030962.3(SBF2):c.4443+224C>G
NM_030962.3(SBF2):c.4443+6T>C
NM_030962.3(SBF2):c.4444-18T>G rs143439179
NM_030962.3(SBF2):c.4459C>T (p.Pro1487Ser)
NM_030962.3(SBF2):c.4465G>A (p.Glu1489Lys) rs864622502
NM_030962.3(SBF2):c.446A>G (p.Asn149Ser)
NM_030962.3(SBF2):c.4509C>T (p.His1503=) rs138816399
NM_030962.3(SBF2):c.4515G>A (p.Val1505=) rs144935862
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330
NM_030962.3(SBF2):c.4523G>A (p.Arg1508His) rs770619905
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.455T>G (p.Leu152Trp) rs1554990623
NM_030962.3(SBF2):c.4563A>T (p.Leu1521Phe) rs148988271
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4603G>A (p.Ala1535Thr) rs546392558
NM_030962.3(SBF2):c.463C>A (p.Leu155Ile) rs1057524731
NM_030962.3(SBF2):c.4659C>T (p.Pro1553=) rs368478401
NM_030962.3(SBF2):c.4666T>C (p.Phe1556Leu) rs189911105
NM_030962.3(SBF2):c.4687T>C (p.Leu1563=) rs563878786
NM_030962.3(SBF2):c.4693A>G (p.Ile1565Val) rs115345208
NM_030962.3(SBF2):c.4698+15C>G rs1554901068
NM_030962.3(SBF2):c.4699-150G>T
NM_030962.3(SBF2):c.4699-9C>A rs376668219
NM_030962.3(SBF2):c.4701T>G (p.Ala1567=) rs750656969
NM_030962.3(SBF2):c.4712A>G (p.Asn1571Ser) rs371960255
NM_030962.3(SBF2):c.4733A>G (p.Lys1578Arg) rs775360425
NM_030962.3(SBF2):c.4760C>G (p.Thr1587Ser) rs1554900597
NM_030962.3(SBF2):c.4782T>G (p.Tyr1594Ter)
NM_030962.3(SBF2):c.4799C>G (p.Thr1600Ser) rs183468503
NM_030962.3(SBF2):c.4799C>T (p.Thr1600Ile) rs183468503
NM_030962.3(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.3(SBF2):c.4805A>G (p.Lys1602Arg)
NM_030962.3(SBF2):c.4809C>T (p.His1603=) rs199670153
NM_030962.3(SBF2):c.4853G>A (p.Arg1618Gln)
NM_030962.3(SBF2):c.4872G>T (p.Val1624=) rs539369489
NM_030962.3(SBF2):c.4890T>A (p.Asp1630Glu) rs963997810
NM_030962.3(SBF2):c.492C>G (p.Val164=) rs559769224
NM_030962.3(SBF2):c.4931G>A (p.Ser1644Asn) rs754078134
NM_030962.3(SBF2):c.4932+216G>A
NM_030962.3(SBF2):c.4932+224C>T
NM_030962.3(SBF2):c.4932+65C>T
NM_030962.3(SBF2):c.4932T>C (p.Ser1644=)
NM_030962.3(SBF2):c.4933-13_4933-9delAATTT rs767990042
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_030962.3(SBF2):c.4933-215G>A
NM_030962.3(SBF2):c.4960A>C (p.Asn1654His)
NM_030962.3(SBF2):c.4970C>T (p.Pro1657Leu)
NM_030962.3(SBF2):c.5004C>T (p.Thr1668=) rs150598413
NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del) rs750958357
NM_030962.3(SBF2):c.5016A>G (p.Lys1672=) rs1564852595
NM_030962.3(SBF2):c.5017G>A (p.Glu1673Lys) rs764823510
NM_030962.3(SBF2):c.5017_5019GAA[1] (p.Glu1674del) rs572571832
NM_030962.3(SBF2):c.5034T>C (p.Asp1678=) rs771306445
NM_030962.3(SBF2):c.5035C>T (p.Arg1679Cys) rs79401259
NM_030962.3(SBF2):c.5036G>A (p.Arg1679His)
NM_030962.3(SBF2):c.5037+12A>G rs372500490
NM_030962.3(SBF2):c.5037+1G>A rs1060499999
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5038-57CAGT[3]
NM_030962.3(SBF2):c.5041C>T (p.Gln1681Ter) rs1343702415
NM_030962.3(SBF2):c.504A>T (p.Gly168=) rs781537575
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.5102G>A (p.Arg1701Lys)
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+18A>T rs201201683
NM_030962.3(SBF2):c.513+297G>A
NM_030962.3(SBF2):c.513+4A>G rs1554990552
NM_030962.3(SBF2):c.5135G>T (p.Gly1712Val)
NM_030962.3(SBF2):c.514-12C>T rs770141264
NM_030962.3(SBF2):c.514-53A>T
NM_030962.3(SBF2):c.5200A>C (p.Ser1734Arg)
NM_030962.3(SBF2):c.5205G>C (p.Gln1735His) rs878855131
NM_030962.3(SBF2):c.5209A>T (p.Thr1737Ser) rs1564850356
NM_030962.3(SBF2):c.5231+14C>T rs371184526
NM_030962.3(SBF2):c.5231+19C>T rs1250788397
NM_030962.3(SBF2):c.5232-7C>A rs752774091
NM_030962.3(SBF2):c.5245A>G (p.Thr1749Ala) rs1288312315
NM_030962.3(SBF2):c.5254_5255insTTAT (p.Lys1752fs) rs1064793771
NM_030962.3(SBF2):c.527T>C (p.Leu176Ser) rs1554990128
NM_030962.3(SBF2):c.5296G>A (p.Val1766Ile) rs886048779
NM_030962.3(SBF2):c.5310A>G (p.Thr1770=) rs1057521006
NM_030962.3(SBF2):c.5319+113delG
NM_030962.3(SBF2):c.5319+52C>T
NM_030962.3(SBF2):c.5319+7C>T rs1057521682
NM_030962.3(SBF2):c.5320-209A>G
NM_030962.3(SBF2):c.5324G>A (p.Arg1775His)
NM_030962.3(SBF2):c.5365A>G (p.Ile1789Val)
NM_030962.3(SBF2):c.5375C>G (p.Ala1792Gly) rs1554897834
NM_030962.3(SBF2):c.5375C>T (p.Ala1792Val) rs1554897834
NM_030962.3(SBF2):c.5410A>G (p.Met1804Val) rs755264093
NM_030962.3(SBF2):c.5437A>G (p.Lys1813Glu)
NM_030962.3(SBF2):c.5451+102T>G
NM_030962.3(SBF2):c.5451+10_5451+13dupTCTT rs1064795190
NM_030962.3(SBF2):c.5451+2T>G rs886042830
NM_030962.3(SBF2):c.5452-165C>G
NM_030962.3(SBF2):c.546G>T (p.Gln182His) rs886047534
NM_030962.3(SBF2):c.5483G>A (p.Cys1828Tyr)
NM_030962.3(SBF2):c.548T>A (p.Leu183Ter) rs1554990103
NM_030962.3(SBF2):c.5498A>G (p.Gln1833Arg)
NM_030962.3(SBF2):c.5503G>A (p.Ala1835Thr) rs886048778
NM_030962.3(SBF2):c.56-5A>C rs1247694809
NM_030962.3(SBF2):c.56-64G>A
NM_030962.3(SBF2):c.568G>A (p.Asp190Asn)
NM_030962.3(SBF2):c.586G>A (p.Gly196Ser)
NM_030962.3(SBF2):c.612G>A (p.Gln204=) rs1554990046
NM_030962.3(SBF2):c.619+1G>A rs1565150234
NM_030962.3(SBF2):c.620-9T>C rs199676895
NM_030962.3(SBF2):c.645T>C (p.Phe215=) rs148187321
NM_030962.3(SBF2):c.700C>T (p.Leu234Phe) rs749378136
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.735G>A (p.Met245Ile) rs1554981022
NM_030962.3(SBF2):c.747A>G (p.Lys249=) rs1554981019
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_030962.3(SBF2):c.753-16T>C rs7128234
NM_030962.3(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
NM_030962.3(SBF2):c.763A>G (p.Ile255Val)
NM_030962.3(SBF2):c.766C>A (p.Pro256Thr) rs879253987
NM_030962.3(SBF2):c.769A>G (p.Ile257Val) rs756866661
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
NM_030962.3(SBF2):c.783G>T (p.Gln261His)
NM_030962.3(SBF2):c.796C>G (p.Leu266Val) rs1565116051
NM_030962.3(SBF2):c.807A>T (p.Pro269=) rs1057521879
NM_030962.3(SBF2):c.832T>A (p.Ser278Thr) rs746749228
NM_030962.3(SBF2):c.861+5G>C rs879253963
NM_030962.3(SBF2):c.862-2A>G
NM_030962.3(SBF2):c.862-99A>C
NM_030962.3(SBF2):c.862-9C>A rs1554979581
NM_030962.3(SBF2):c.869T>G (p.Val290Gly)
NM_030962.3(SBF2):c.87G>C (p.Gln29His) rs751336040
NM_030962.3(SBF2):c.898A>G (p.Ile300Val) rs141669540
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.925T>G (p.Ser309Ala) rs1300253311
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159
NM_030962.3(SBF2):c.942A>G (p.Pro314=) rs753903194
NM_030962.3(SBF2):c.946C>T (p.Leu316=) rs374841593
NM_030962.3(SBF2):c.975+8A>G
NM_030962.3(SBF2):c.976-248T>C
NM_030962.3(SBF2):c.993G>A (p.Leu331=) rs766193938
NM_030962.3:c.514-12C>T
SBF2, EX11-12DEL
SBF2, IVS32DS, G-C, +1

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