ClinVar Miner

List of variants in gene SBF2 reported by GeneDx

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Gene type:
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Total variants: 102
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HGVS dbSNP
NC_000011.10:g.9832210_9832211del
NM_030962.3(SBF2):c.*20C>G rs1057523279
NM_030962.3(SBF2):c.1054-11T>C rs1554976748
NM_030962.3(SBF2):c.1167+74C>T
NM_030962.3(SBF2):c.1296+296A>G
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.1396-295T>C
NM_030962.3(SBF2):c.141+258C>T
NM_030962.3(SBF2):c.142-11A>G rs539146891
NM_030962.3(SBF2):c.1424A>G (p.Gln475Arg) rs199894823
NM_030962.3(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.1711-158dup
NM_030962.3(SBF2):c.1711-84G>A
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.21C>T (p.Tyr7=) rs1555111778
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.3646C>G (p.Gln1216Glu) rs12574508
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.3754A>T (p.Ser1252Cys) rs139967004
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.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.402+15G>A rs780717348
NM_030962.3(SBF2):c.403-15T>G rs887143579
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.4095C>T (p.Ile1365=) rs142904756
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.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.4444-18T>G rs143439179
NM_030962.3(SBF2):c.4509C>T (p.His1503=) rs138816399
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.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.4760C>G (p.Thr1587Ser) rs1554900597
NM_030962.3(SBF2):c.479G>T (p.Cys160Phe) rs1214507322
NM_030962.3(SBF2):c.492C>G (p.Val164=) rs559769224
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.4933-15T>C rs75447733
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.5034T>C (p.Asp1678=) rs771306445
NM_030962.3(SBF2):c.5037+12A>G rs372500490
NM_030962.3(SBF2):c.5037C>T (p.Arg1679=) rs200784979
NM_030962.3(SBF2):c.5038-57CAGT[3]
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.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.514-12C>T rs770141264
NM_030962.3(SBF2):c.514-53A>T
NM_030962.3(SBF2):c.5231+14C>T rs371184526
NM_030962.3(SBF2):c.5231+19C>T rs1250788397
NM_030962.3(SBF2):c.5254_5255insTTAT (p.Lys1752fs) rs1064793771
NM_030962.3(SBF2):c.5310A>G (p.Thr1770=) rs1057521006
NM_030962.3(SBF2):c.5319+113del
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.5451+102T>G
NM_030962.3(SBF2):c.5451+10_5451+13dup rs1064795190
NM_030962.3(SBF2):c.5452-165C>G
NM_030962.3(SBF2):c.56-64G>A
NM_030962.3(SBF2):c.620-9T>C rs199676895
NM_030962.3(SBF2):c.645T>C (p.Phe215=) rs148187321
NM_030962.3(SBF2):c.705T>C (p.Ser235=) rs143209062
NM_030962.3(SBF2):c.753-16T>C rs7128234
NM_030962.3(SBF2):c.766C>A (p.Pro256Thr) rs879253987
NM_030962.3(SBF2):c.807A>T (p.Pro269=) rs1057521879
NM_030962.3(SBF2):c.861+5G>C rs879253963
NM_030962.3(SBF2):c.862-99A>C
NM_030962.3(SBF2):c.862-9C>A rs1554979581
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.976-248T>C
NM_030962.3(SBF2):c.993G>A (p.Leu331=) rs766193938

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