ClinVar Miner

List of variants in gene SBF2 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 339
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg) rs199894823 0.00059
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_030962.4(SBF2):c.1408C>A (p.Pro470Thr) rs149967939 0.00052
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys) rs139217120 0.00029
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330 0.00029
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_030962.4(SBF2):c.1498C>T (p.Arg500Trp) rs146366305 0.00012
NM_030962.4(SBF2):c.4076C>T (p.Ala1359Val) rs368839717 0.00009
NM_030962.4(SBF2):c.783G>T (p.Gln261His) rs759932929 0.00008
NM_030962.4(SBF2):c.1436G>A (p.Arg479Gln) rs775059182 0.00007
NM_030962.4(SBF2):c.1499G>A (p.Arg500Gln) rs759084094 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.4257+6C>G rs370274486 0.00007
NM_030962.4(SBF2):c.3617T>C (p.Val1206Ala) rs766573319 0.00006
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.3758C>T (p.Thr1253Ile) rs368392902 0.00005
NM_030962.4(SBF2):c.4039C>T (p.Arg1347Trp) rs750938785 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.136G>C (p.Glu46Gln) rs878855130 0.00004
NM_030962.4(SBF2):c.1559G>A (p.Arg520Gln) rs546485749 0.00004
NM_030962.4(SBF2):c.3845C>T (p.Ser1282Phe) rs1442358051 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.4127C>T (p.Ala1376Val) rs922840746 0.00004
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His) rs770619905 0.00004
NM_030962.4(SBF2):c.1166A>G (p.Lys389Arg) rs1490002752 0.00003
NM_030962.4(SBF2):c.1573T>C (p.Cys525Arg) rs746860317 0.00003
NM_030962.4(SBF2):c.190A>G (p.Thr64Ala) rs374114606 0.00003
NM_030962.4(SBF2):c.257A>G (p.Tyr86Cys) rs745669920 0.00003
NM_030962.4(SBF2):c.403-15T>G rs887143579 0.00003
NM_030962.4(SBF2):c.566A>G (p.His189Arg) rs764000654 0.00003
NM_030962.4(SBF2):c.56G>T (p.Gly19Val) rs375560902 0.00003
NM_030962.4(SBF2):c.832T>A (p.Ser278Thr) rs746749228 0.00003
NM_030962.4(SBF2):c.898A>G (p.Ile300Val) rs141669540 0.00003
NM_030962.4(SBF2):c.1072G>A (p.Val358Ile) rs1372841015 0.00002
NM_030962.4(SBF2):c.1130T>C (p.Ile377Thr) rs371432409 0.00002
NM_030962.4(SBF2):c.1327G>C (p.Val443Leu) rs765958389 0.00002
NM_030962.4(SBF2):c.3533A>G (p.Asn1178Ser) rs1310790545 0.00002
NM_030962.4(SBF2):c.3536G>A (p.Arg1179His) rs751750978 0.00002
NM_030962.4(SBF2):c.3733C>T (p.His1245Tyr) rs753626252 0.00002
NM_030962.4(SBF2):c.3818G>A (p.Ser1273Asn) rs774935915 0.00002
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931 0.00002
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359 0.00002
NM_030962.4(SBF2):c.5468G>A (p.Arg1823His) rs369992460 0.00002
NM_030962.4(SBF2):c.5546C>T (p.Ala1849Val) rs1048725630 0.00002
NM_030962.4(SBF2):c.580A>C (p.Ile194Leu) rs746246566 0.00002
NM_030962.4(SBF2):c.1025G>A (p.Arg342Gln) rs954771068 0.00001
NM_030962.4(SBF2):c.1050G>A (p.Met350Ile) rs1947549366 0.00001
NM_030962.4(SBF2):c.1061A>C (p.Glu354Ala) rs761829741 0.00001
NM_030962.4(SBF2):c.1083A>G (p.Arg361=) rs1362168505 0.00001
NM_030962.4(SBF2):c.109G>C (p.Asp37His) rs759977048 0.00001
NM_030962.4(SBF2):c.1124A>G (p.Gln375Arg) rs770153492 0.00001
NM_030962.4(SBF2):c.1158T>G (p.His386Gln) rs780071398 0.00001
NM_030962.4(SBF2):c.1163A>G (p.His388Arg) rs1397329019 0.00001
NM_030962.4(SBF2):c.118C>T (p.Pro40Ser) rs1194397200 0.00001
NM_030962.4(SBF2):c.1222C>T (p.Leu408Phe) rs1220835376 0.00001
NM_030962.4(SBF2):c.1226G>T (p.Ser409Ile) rs1183650459 0.00001
NM_030962.4(SBF2):c.1277C>A (p.Ser426Tyr) rs759009170 0.00001
NM_030962.4(SBF2):c.1316A>T (p.Glu439Val) rs754505342 0.00001
NM_030962.4(SBF2):c.1337A>G (p.Asn446Ser) rs762615474 0.00001
NM_030962.4(SBF2):c.1345G>C (p.Val449Leu) rs1441833591 0.00001
NM_030962.4(SBF2):c.141+5G>A rs1284700305 0.00001
NM_030962.4(SBF2):c.1460G>A (p.Arg487Gln) rs538390886 0.00001
NM_030962.4(SBF2):c.1582C>G (p.Pro528Ala) rs745328047 0.00001
NM_030962.4(SBF2):c.1594C>T (p.Pro532Ser) rs1001858508 0.00001
NM_030962.4(SBF2):c.1598T>C (p.Val533Ala) rs756897983 0.00001
NM_030962.4(SBF2):c.1604C>T (p.Ser535Leu) rs542028180 0.00001
NM_030962.4(SBF2):c.1610T>C (p.Met537Thr) rs1278738726 0.00001
NM_030962.4(SBF2):c.1799G>A (p.Arg600Gln) rs185968327 0.00001
NM_030962.4(SBF2):c.1847A>G (p.Asn616Ser) rs1043801815 0.00001
NM_030962.4(SBF2):c.1852A>G (p.Thr618Ala) rs779355592 0.00001
NM_030962.4(SBF2):c.230G>A (p.Arg77Gln) rs747102118 0.00001
NM_030962.4(SBF2):c.3466C>T (p.Leu1156Phe) rs1433995523 0.00001
NM_030962.4(SBF2):c.350C>G (p.Ala117Gly) rs767514383 0.00001
NM_030962.4(SBF2):c.3517C>T (p.Arg1173Cys) rs779290368 0.00001
NM_030962.4(SBF2):c.3518G>A (p.Arg1173His) rs757577170 0.00001
NM_030962.4(SBF2):c.3527G>A (p.Arg1176Gln) rs185264589 0.00001
NM_030962.4(SBF2):c.3565A>G (p.Arg1189Gly) rs769777008 0.00001
NM_030962.4(SBF2):c.3598T>C (p.Phe1200Leu) rs749729139 0.00001
NM_030962.4(SBF2):c.3652G>A (p.Ala1218Thr) rs763594624 0.00001
NM_030962.4(SBF2):c.3658A>G (p.Thr1220Ala) rs753811515 0.00001
NM_030962.4(SBF2):c.3668T>C (p.Leu1223Ser) rs760210827 0.00001
NM_030962.4(SBF2):c.3679A>G (p.Ser1227Gly) rs368618956 0.00001
NM_030962.4(SBF2):c.3680G>C (p.Ser1227Thr) rs1261598853 0.00001
NM_030962.4(SBF2):c.3686T>C (p.Ile1229Thr) rs1443759629 0.00001
NM_030962.4(SBF2):c.3731T>C (p.Val1244Ala) rs757063919 0.00001
NM_030962.4(SBF2):c.3770G>A (p.Arg1257Lys) rs775982886 0.00001
NM_030962.4(SBF2):c.3811C>T (p.Arg1271Cys) rs765001700 0.00001
NM_030962.4(SBF2):c.3814T>A (p.Ser1272Thr) rs760386811 0.00001
NM_030962.4(SBF2):c.3823C>T (p.Arg1275Cys) rs956737183 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_030962.4(SBF2):c.3931A>G (p.Lys1311Glu) rs200167746 0.00001
NM_030962.4(SBF2):c.3968C>T (p.Ser1323Leu) rs369288449 0.00001
NM_030962.4(SBF2):c.4051G>A (p.Ala1351Thr) rs527347035 0.00001
NM_030962.4(SBF2):c.4102G>A (p.Asp1368Asn) rs144063037 0.00001
NM_030962.4(SBF2):c.4118T>A (p.Phe1373Tyr) rs753564262 0.00001
NM_030962.4(SBF2):c.4120C>G (p.Leu1374Val) rs746286799 0.00001
NM_030962.4(SBF2):c.4123A>G (p.Lys1375Glu) rs1217139040 0.00001
NM_030962.4(SBF2):c.4138T>A (p.Ser1380Thr) rs1564876099 0.00001
NM_030962.4(SBF2):c.413G>C (p.Gly138Ala) rs1949191748 0.00001
NM_030962.4(SBF2):c.4156C>G (p.Leu1386Val) rs771436343 0.00001
NM_030962.4(SBF2):c.4180G>C (p.Val1394Leu) rs142029000 0.00001
NM_030962.4(SBF2):c.4186G>A (p.Val1396Ile) rs751799091 0.00001
NM_030962.4(SBF2):c.4204A>C (p.Asn1402His) rs1590132478 0.00001
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr) rs370601742 0.00001
NM_030962.4(SBF2):c.4258-4C>G rs757097139 0.00001
NM_030962.4(SBF2):c.427G>A (p.Val143Met) rs142469360 0.00001
NM_030962.4(SBF2):c.4288C>T (p.Pro1430Ser) rs1312716983 0.00001
NM_030962.4(SBF2):c.4373G>A (p.Ser1458Asn) rs1343934459 0.00001
NM_030962.4(SBF2):c.4443+6T>C rs1450773584 0.00001
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742 0.00001
NM_030962.4(SBF2):c.446A>G (p.Asn149Ser) rs1337725457 0.00001
NM_030962.4(SBF2):c.474C>G (p.Asn158Lys) rs745535685 0.00001
NM_030962.4(SBF2):c.546G>T (p.Gln182His) rs886047534 0.00001
NM_030962.4(SBF2):c.5483G>A (p.Cys1828Tyr) rs146064484 0.00001
NM_030962.4(SBF2):c.5485G>A (p.Ala1829Thr) rs750660963 0.00001
NM_030962.4(SBF2):c.586G>A (p.Gly196Ser) rs150725040 0.00001
NM_030962.4(SBF2):c.64G>A (p.Glu22Lys) rs749815764 0.00001
NM_030962.4(SBF2):c.670G>A (p.Val224Ile) rs1209039793 0.00001
NM_030962.4(SBF2):c.703A>G (p.Ser235Gly) rs1441387053 0.00001
NM_030962.4(SBF2):c.761A>G (p.Tyr254Cys) rs1947932613 0.00001
NM_030962.4(SBF2):c.763A>G (p.Ile255Val) rs1259744769 0.00001
NM_030962.4(SBF2):c.769A>G (p.Ile257Val) rs756866661 0.00001
NM_030962.4(SBF2):c.811C>A (p.Pro271Thr) rs1044734721 0.00001
NM_030962.4(SBF2):c.812C>G (p.Pro271Arg) rs1223197381 0.00001
NM_030962.4(SBF2):c.830A>C (p.His277Pro) rs1284766357 0.00001
NM_030962.4(SBF2):c.854A>G (p.His285Arg) rs146971151 0.00001
NM_030962.4(SBF2):c.869T>G (p.Val290Gly) rs771827174 0.00001
NM_030962.4(SBF2):c.87G>C (p.Gln29His) rs751336040 0.00001
NM_030962.4(SBF2):c.913T>C (p.Cys305Arg) rs758820956 0.00001
NM_030962.4(SBF2):c.925T>G (p.Ser309Ala) rs1300253311 0.00001
NC_000011.10:g.(?_10294005)_(10294079_?)dup
NC_000011.10:g.(?_9807990)_(9858406_?)del
NC_000011.9:g.(?_9801955)_(10064538_?)dup
NM_030962.4(SBF2):c.1016C>T (p.Pro339Leu)
NM_030962.4(SBF2):c.1028C>T (p.Thr343Ile)
NM_030962.4(SBF2):c.1045A>G (p.Lys349Glu) rs746685729
NM_030962.4(SBF2):c.109G>A (p.Asp37Asn) rs759977048
NM_030962.4(SBF2):c.1102C>G (p.Gln368Glu) rs2134472163
NM_030962.4(SBF2):c.1112G>C (p.Arg371Thr)
NM_030962.4(SBF2):c.1130T>G (p.Ile377Arg) rs371432409
NM_030962.4(SBF2):c.1167+4A>G rs1240919799
NM_030962.4(SBF2):c.116C>T (p.Thr39Ile) rs1957273770
NM_030962.4(SBF2):c.1183C>A (p.Gln395Lys) rs1590699984
NM_030962.4(SBF2):c.1189G>T (p.Gly397Cys) rs2134469917
NM_030962.4(SBF2):c.1214C>G (p.Thr405Ser) rs2134469840
NM_030962.4(SBF2):c.1216A>G (p.Lys406Glu) rs760704483
NM_030962.4(SBF2):c.1222C>G (p.Leu408Val) rs1220835376
NM_030962.4(SBF2):c.1240G>A (p.Ala414Thr) rs1947481086
NM_030962.4(SBF2):c.1308T>G (p.Phe436Leu) rs2134459399
NM_030962.4(SBF2):c.1333G>A (p.Glu445Lys) rs1565100821
NM_030962.4(SBF2):c.1351A>G (p.Met451Val)
NM_030962.4(SBF2):c.1396-3C>G rs375346684
NM_030962.4(SBF2):c.1399A>G (p.Asn467Asp)
NM_030962.4(SBF2):c.1411C>A (p.His471Asn)
NM_030962.4(SBF2):c.1412A>T (p.His471Leu) rs763176916
NM_030962.4(SBF2):c.1413T>A (p.His471Gln) rs769911496
NM_030962.4(SBF2):c.1414A>G (p.Met472Val) rs1590636623
NM_030962.4(SBF2):c.1441A>G (p.Thr481Ala)
NM_030962.4(SBF2):c.1442C>G (p.Thr481Arg) rs2134388086
NM_030962.4(SBF2):c.144T>A (p.Phe48Leu)
NM_030962.4(SBF2):c.1517A>C (p.Gln506Pro) rs2134387742
NM_030962.4(SBF2):c.1520A>G (p.Glu507Gly)
NM_030962.4(SBF2):c.1537C>G (p.Gln513Glu)
NM_030962.4(SBF2):c.1546C>G (p.Pro516Ala)
NM_030962.4(SBF2):c.1553C>A (p.Ala518Asp) rs1474146157
NM_030962.4(SBF2):c.1555A>G (p.Thr519Ala) rs2134387621
NM_030962.4(SBF2):c.1571A>C (p.Lys524Thr) rs1207040016
NM_030962.4(SBF2):c.157G>A (p.Gly53Arg)
NM_030962.4(SBF2):c.1580T>C (p.Val527Ala) rs1867103004
NM_030962.4(SBF2):c.1600G>C (p.Val534Leu) rs1590635892
NM_030962.4(SBF2):c.1601-10C>A rs761998992
NM_030962.4(SBF2):c.1601-3T>G rs2134369689
NM_030962.4(SBF2):c.1615A>G (p.Lys539Glu) rs775279773
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu) rs201806063
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met) rs372109447
NM_030962.4(SBF2):c.1632C>A (p.Phe544Leu) rs777289065
NM_030962.4(SBF2):c.1636A>T (p.Ser546Cys) rs2134369489
NM_030962.4(SBF2):c.1652_1653inv (p.Glu551Val)
NM_030962.4(SBF2):c.1654G>A (p.Val552Ile)
NM_030962.4(SBF2):c.165G>T (p.Gln55His)
NM_030962.4(SBF2):c.1661G>A (p.Arg554Lys) rs1161860280
NM_030962.4(SBF2):c.1675T>G (p.Phe559Val)
NM_030962.4(SBF2):c.1675_1677inv (p.Phe559Glu)
NM_030962.4(SBF2):c.167T>C (p.Leu56Pro)
NM_030962.4(SBF2):c.1711-5C>A rs770969528
NM_030962.4(SBF2):c.1758G>C (p.Gln586His)
NM_030962.4(SBF2):c.1768G>A (p.Asp590Asn) rs1565064376
NM_030962.4(SBF2):c.181A>G (p.Lys61Glu) rs549233218
NM_030962.4(SBF2):c.1822T>G (p.Phe608Val) rs2134363226
NM_030962.4(SBF2):c.1831A>T (p.Ile611Leu) rs964428805
NM_030962.4(SBF2):c.1834A>G (p.Ile612Val)
NM_030962.4(SBF2):c.1837A>G (p.Arg613Gly)
NM_030962.4(SBF2):c.187C>T (p.Pro63Ser)
NM_030962.4(SBF2):c.195C>G (p.Phe65Leu) rs1949709027
NM_030962.4(SBF2):c.215A>C (p.Asp72Ala) rs1060500000
NM_030962.4(SBF2):c.257A>T (p.Tyr86Phe) rs745669920
NM_030962.4(SBF2):c.267G>T (p.Glu89Asp) rs1565165888
NM_030962.4(SBF2):c.272A>C (p.Asn91Thr) rs1206056257
NM_030962.4(SBF2):c.279+4C>A rs757128114
NM_030962.4(SBF2):c.280-6_280-5del
NM_030962.4(SBF2):c.293A>G (p.Glu98Gly)
NM_030962.4(SBF2):c.305G>T (p.Gly102Val)
NM_030962.4(SBF2):c.313A>G (p.Lys105Glu) rs139730490
NM_030962.4(SBF2):c.332A>C (p.Gln111Pro) rs1949239187
NM_030962.4(SBF2):c.344T>G (p.Val115Gly)
NM_030962.4(SBF2):c.3457T>C (p.Tyr1153His) rs1060499998
NM_030962.4(SBF2):c.3469T>A (p.Leu1157Ile) rs2133937354
NM_030962.4(SBF2):c.3475G>A (p.Val1159Ile)
NM_030962.4(SBF2):c.3479C>T (p.Pro1160Leu) rs1233967178
NM_030962.4(SBF2):c.348T>G (p.Phe116Leu) rs1949238558
NM_030962.4(SBF2):c.3505C>A (p.Pro1169Thr) rs535680998
NM_030962.4(SBF2):c.353C>T (p.Pro118Leu) rs1949238001
NM_030962.4(SBF2):c.3547G>T (p.Val1183Leu) rs2133937176
NM_030962.4(SBF2):c.3550T>C (p.Cys1184Arg) rs762738168
NM_030962.4(SBF2):c.3587G>A (p.Arg1196Gln) rs376309876
NM_030962.4(SBF2):c.3602A>G (p.His1201Arg) rs869312970
NM_030962.4(SBF2):c.3611G>T (p.Gly1204Val) rs781282456
NM_030962.4(SBF2):c.3632C>G (p.Ser1211Cys) rs1356162033
NM_030962.4(SBF2):c.3644C>G (p.Pro1215Arg) rs1855445153
NM_030962.4(SBF2):c.364G>A (p.Val122Met)
NM_030962.4(SBF2):c.3652+5G>A rs199502044
NM_030962.4(SBF2):c.3656C>T (p.Pro1219Leu)
NM_030962.4(SBF2):c.3659C>T (p.Thr1220Ile) rs1439541685
NM_030962.4(SBF2):c.3673T>A (p.Ser1225Thr)
NM_030962.4(SBF2):c.3674C>A (p.Ser1225Tyr) rs759215256
NM_030962.4(SBF2):c.3674_3691dup (p.Glu1230_Gln1231insProSerSerSerIleGlu) rs2133931845
NM_030962.4(SBF2):c.3712T>A (p.Leu1238Ile) rs1564890006
NM_030962.4(SBF2):c.3722C>A (p.Ala1241Asp) rs779174513
NM_030962.4(SBF2):c.3734A>G (p.His1245Arg) rs2133931756
NM_030962.4(SBF2):c.3741A>T (p.Lys1247Asn) rs1855252886
NM_030962.4(SBF2):c.3745A>G (p.Arg1249Gly) rs1554914278
NM_030962.4(SBF2):c.3761T>A (p.Leu1254His)
NM_030962.4(SBF2):c.3761T>C (p.Leu1254Pro) rs762211340
NM_030962.4(SBF2):c.3784C>G (p.Leu1262Val) rs1270676073
NM_030962.4(SBF2):c.3812G>T (p.Arg1271Leu) rs201249004
NM_030962.4(SBF2):c.3823C>G (p.Arg1275Gly) rs956737183
NM_030962.4(SBF2):c.3857T>C (p.Val1286Ala) rs869312963
NM_030962.4(SBF2):c.3866G>T (p.Arg1289Leu) rs757836523
NM_030962.4(SBF2):c.3871G>C (p.Ala1291Pro) rs1488414945
NM_030962.4(SBF2):c.389C>T (p.Pro130Leu) rs1201147678
NM_030962.4(SBF2):c.3902A>G (p.Asn1301Ser) rs1429630644
NM_030962.4(SBF2):c.3925C>T (p.Leu1309Phe) rs1564879807
NM_030962.4(SBF2):c.3938A>G (p.Gln1313Arg) rs1554909178
NM_030962.4(SBF2):c.394A>G (p.Ile132Val)
NM_030962.4(SBF2):c.3956T>G (p.Phe1319Cys) rs2133911307
NM_030962.4(SBF2):c.3979-4G>T rs375742620
NM_030962.4(SBF2):c.402+11_402+21del
NM_030962.4(SBF2):c.4052C>A (p.Ala1351Asp) rs2133904474
NM_030962.4(SBF2):c.4067T>C (p.Leu1356Pro) rs1854252785
NM_030962.4(SBF2):c.4090A>G (p.Thr1364Ala)
NM_030962.4(SBF2):c.4094T>G (p.Ile1365Ser)
NM_030962.4(SBF2):c.4111G>A (p.Val1371Met) rs149501654
NM_030962.4(SBF2):c.4121T>G (p.Leu1374Arg) rs1854248122
NM_030962.4(SBF2):c.412G>C (p.Gly138Arg)
NM_030962.4(SBF2):c.4133G>A (p.Gly1378Glu) rs1854247198
NM_030962.4(SBF2):c.4146G>C (p.Trp1382Cys) rs1854246275
NM_030962.4(SBF2):c.4156-15_4156-5del rs745522461
NM_030962.4(SBF2):c.415T>G (p.Leu139Val) rs146361949
NM_030962.4(SBF2):c.4171C>G (p.Gln1391Glu)
NM_030962.4(SBF2):c.4173G>T (p.Gln1391His)
NM_030962.4(SBF2):c.4183G>T (p.Val1395Phe)
NM_030962.4(SBF2):c.4203G>C (p.Glu1401Asp) rs750353766
NM_030962.4(SBF2):c.4214C>T (p.Ser1405Leu)
NM_030962.4(SBF2):c.4221G>C (p.Leu1407Phe)
NM_030962.4(SBF2):c.4236A>G (p.Glu1412=)
NM_030962.4(SBF2):c.4279C>T (p.Leu1427Phe) rs760329902
NM_030962.4(SBF2):c.4282A>G (p.Ser1428Gly) rs2133896771
NM_030962.4(SBF2):c.4283G>T (p.Ser1428Ile) rs1853958713
NM_030962.4(SBF2):c.4301C>T (p.Thr1434Ile)
NM_030962.4(SBF2):c.4351C>G (p.His1451Asp) rs2133896649
NM_030962.4(SBF2):c.4377G>C (p.Leu1459Phe)
NM_030962.4(SBF2):c.4408C>G (p.Pro1470Ala)
NM_030962.4(SBF2):c.4420C>G (p.Gln1474Glu) rs1590130857
NM_030962.4(SBF2):c.4425C>G (p.Phe1475Leu)
NM_030962.4(SBF2):c.4444G>A (p.Val1482Ile)
NM_030962.4(SBF2):c.4465G>A (p.Glu1489Lys) rs864622502
NM_030962.4(SBF2):c.4478A>G (p.Asn1493Ser)
NM_030962.4(SBF2):c.4510T>G (p.Tyr1504Asp) rs1853093188
NM_030962.4(SBF2):c.4516T>G (p.Ser1506Ala)
NM_030962.4(SBF2):c.4522C>G (p.Arg1508Gly) rs141108330
NM_030962.4(SBF2):c.4564G>C (p.Glu1522Gln) rs1853090043
NM_030962.4(SBF2):c.456G>A (p.Leu152=) rs1949189908
NM_030962.4(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.4(SBF2):c.494C>T (p.Pro165Leu) rs1949187604
NM_030962.4(SBF2):c.497C>T (p.Ala166Val)
NM_030962.4(SBF2):c.506G>A (p.Gly169Glu) rs1949186665
NM_030962.4(SBF2):c.513+4A>G rs1554990552
NM_030962.4(SBF2):c.527T>C (p.Leu176Ser) rs1554990128
NM_030962.4(SBF2):c.536G>A (p.Gly179Glu)
NM_030962.4(SBF2):c.5470G>A (p.Val1824Met) rs1851934295
NM_030962.4(SBF2):c.5498A>G (p.Gln1833Arg) rs763965438
NM_030962.4(SBF2):c.5522A>G (p.Lys1841Arg)
NM_030962.4(SBF2):c.5530_5531del (p.Ser1844fs) rs1293444505
NM_030962.4(SBF2):c.555G>C (p.Gln185His) rs1254270693
NM_030962.4(SBF2):c.565C>T (p.His189Tyr) rs1280211892
NM_030962.4(SBF2):c.568G>A (p.Asp190Asn) rs201738577
NM_030962.4(SBF2):c.574C>G (p.Leu192Val) rs1949129969
NM_030962.4(SBF2):c.595G>A (p.Val199Met)
NM_030962.4(SBF2):c.611A>G (p.Gln204Arg) rs2134626742
NM_030962.4(SBF2):c.614A>C (p.Gln205Pro) rs1949128392
NM_030962.4(SBF2):c.619+6T>A
NM_030962.4(SBF2):c.61G>A (p.Gly21Arg) rs774844294
NM_030962.4(SBF2):c.620-10dup rs1948023557
NM_030962.4(SBF2):c.626A>C (p.Gln209Pro)
NM_030962.4(SBF2):c.673C>T (p.Leu225Phe)
NM_030962.4(SBF2):c.674T>C (p.Leu225Pro)
NM_030962.4(SBF2):c.700C>T (p.Leu234Phe) rs749378136
NM_030962.4(SBF2):c.716G>A (p.Arg239Lys)
NM_030962.4(SBF2):c.727T>A (p.Ser243Thr)
NM_030962.4(SBF2):c.728C>A (p.Ser243Tyr) rs2134513972
NM_030962.4(SBF2):c.735G>A (p.Met245Ile) rs1554981022
NM_030962.4(SBF2):c.745A>G (p.Lys249Glu)
NM_030962.4(SBF2):c.747A>G (p.Lys249=) rs1554981019
NM_030962.4(SBF2):c.766C>A (p.Pro256Thr) rs879253987
NM_030962.4(SBF2):c.767C>G (p.Pro256Arg) rs1947932193
NM_030962.4(SBF2):c.76A>G (p.Lys26Glu)
NM_030962.4(SBF2):c.772C>G (p.Leu258Val)
NM_030962.4(SBF2):c.776C>T (p.Pro259Leu)
NM_030962.4(SBF2):c.782A>G (p.Gln261Arg)
NM_030962.4(SBF2):c.791A>G (p.Glu264Gly) rs928271143
NM_030962.4(SBF2):c.793G>T (p.Val265Phe) rs1655963955
NM_030962.4(SBF2):c.796C>G (p.Leu266Val) rs1565116051
NM_030962.4(SBF2):c.820A>G (p.Ile274Val)
NM_030962.4(SBF2):c.861+5G>C rs879253963
NM_030962.4(SBF2):c.873_875del (p.Ile292del) rs2134496803
NM_030962.4(SBF2):c.883T>A (p.Leu295Met)
NM_030962.4(SBF2):c.887A>T (p.Asp296Val)
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys) rs781039677
NM_030962.4(SBF2):c.910G>C (p.Glu304Gln) rs781039677
NM_030962.4(SBF2):c.931C>T (p.Leu311Phe)
NM_030962.4(SBF2):c.935C>T (p.Pro312Leu) rs1947799030
NM_030962.4(SBF2):c.986C>T (p.Pro329Leu)
NM_030962.4(SBF2):c.989A>G (p.Asp330Gly)

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