List of variants in gene SBF2 studied for not provided

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

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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