ClinVar Miner

List of variants in gene SBF2 studied for not provided

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Total variants: 80
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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
NM_030962.3(SBF2):c.1053+2T>C rs1554977189
NM_030962.3(SBF2):c.1159T>C (p.Phe387Leu) rs1247599264
NM_030962.3(SBF2):c.1167+74C>T
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.1296+296A>G
NM_030962.3(SBF2):c.1327G>C (p.Val443Leu) rs765958389
NM_030962.3(SBF2):c.1396-295T>C
NM_030962.3(SBF2):c.141+258C>T
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.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1711-158dupG
NM_030962.3(SBF2):c.1711-84G>A
NM_030962.3(SBF2):c.1804A>G (p.Ile602Val) rs751375939
NM_030962.3(SBF2):c.257A>G (p.Tyr86Cys) rs745669920
NM_030962.3(SBF2):c.280-193G>A
NM_030962.3(SBF2):c.304G>T (p.Gly102Cys) rs879253916
NM_030962.3(SBF2):c.3456-145T>C
NM_030962.3(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334
NM_030962.3(SBF2):c.3653-233C>T
NM_030962.3(SBF2):c.3653-288G>A
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.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.4070T>C (p.Met1357Thr) rs1554907847
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.4257+1G>A rs876661288
NM_030962.3(SBF2):c.4315C>T (p.Gln1439Ter) rs879253988
NM_030962.3(SBF2):c.4443+224C>G
NM_030962.3(SBF2):c.4522C>T (p.Arg1508Cys) rs141108330
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.4666T>C (p.Phe1556Leu) rs189911105
NM_030962.3(SBF2):c.4699-150G>T
NM_030962.3(SBF2):c.4699-9C>A rs376668219
NM_030962.3(SBF2):c.4760C>G (p.Thr1587Ser) rs1554900597
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.4932+216G>A
NM_030962.3(SBF2):c.4932+224C>T
NM_030962.3(SBF2):c.4932+65C>T
NM_030962.3(SBF2):c.4933-215G>A
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]
NM_030962.3(SBF2):c.5054C>G (p.Ser1685Trp) rs148468522
NM_030962.3(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_030962.3(SBF2):c.513+297G>A
NM_030962.3(SBF2):c.514-53A>T
NM_030962.3(SBF2):c.5254_5255insTTAT (p.Lys1752fs) rs1064793771
NM_030962.3(SBF2):c.5319+113delG
NM_030962.3(SBF2):c.5319+52C>T
NM_030962.3(SBF2):c.5320-209A>G
NM_030962.3(SBF2):c.5451+102T>G
NM_030962.3(SBF2):c.5451+2T>G rs886042830
NM_030962.3(SBF2):c.5452-165C>G
NM_030962.3(SBF2):c.548T>A (p.Leu183Ter) rs1554990103
NM_030962.3(SBF2):c.56-64G>A
NM_030962.3(SBF2):c.619+1G>A rs1565150234
NM_030962.3(SBF2):c.766C>A (p.Pro256Thr) rs879253987
NM_030962.3(SBF2):c.861+5G>C rs879253963
NM_030962.3(SBF2):c.862-99A>C
NM_030962.3(SBF2):c.87G>C (p.Gln29His) rs751336040
NM_030962.3(SBF2):c.976-248T>C
NM_030962.3:c.514-12C>T

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