ClinVar Miner

List of variants in gene SBF2 studied for not specified

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.753-16T>A rs7128234 0.18140
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_030962.4(SBF2):c.909C>T (p.Pro303=) rs16907355 0.05858
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_030962.4(SBF2):c.645T>C (p.Phe215=) rs148187321 0.00491
NM_030962.4(SBF2):c.777G>A (p.Pro259=) rs142261202 0.00102
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His) rs150028248 0.00059
NM_030962.4(SBF2):c.4444-18T>G rs143439179 0.00041
NM_030962.4(SBF2):c.705T>C (p.Ser235=) rs143209062 0.00033
NM_030962.4(SBF2):c.1509A>G (p.Glu503=) rs143773975 0.00030
NM_030962.4(SBF2):c.513+18A>T rs201201683 0.00027
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_030962.4(SBF2):c.651A>G (p.Ala217=) rs200293270 0.00019
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys) rs139967004 0.00014
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=) rs142904756 0.00011
NM_030962.4(SBF2):c.4076C>T (p.Ala1359Val) rs368839717 0.00009
NM_030962.4(SBF2):c.403-15T>G rs887143579 0.00003
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
NM_030962.4(SBF2):c.993G>A (p.Leu331=) rs766193938 0.00003
NM_030962.4(SBF2):c.1164C>T (p.His388=) rs959559753 0.00002
NM_030962.4(SBF2):c.142-11A>G rs539146891 0.00002
NM_030962.4(SBF2):c.402+15G>A rs780717348 0.00002
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.3794-5T>C rs750041384 0.00001
NM_030962.4(SBF2):c.4068G>A (p.Leu1356=) rs1429589073 0.00001
NM_030962.4(SBF2):c.4266C>T (p.Ser1422=) rs763445946 0.00001
NM_030962.4(SBF2):c.427G>A (p.Val143Met) rs142469360 0.00001
NM_030962.4(SBF2):c.4509C>T (p.His1503=) rs138816399 0.00001
NM_030962.4(SBF2):c.504A>T (p.Gly168=) rs781537575 0.00001
NM_030962.4(SBF2):c.56-5A>C rs1247694809 0.00001
NM_030962.4(SBF2):c.620-9T>C rs199676895 0.00001
NM_030962.4(SBF2):c.*20C>G rs1057523279
NM_030962.4(SBF2):c.1054-11T>C rs1554976748
NM_030962.4(SBF2):c.1110T>C (p.Tyr370=) rs201361655
NM_030962.4(SBF2):c.1273A>C (p.Arg425=) rs1554976504
NM_030962.4(SBF2):c.1491T>C (p.Asn497=) rs767806871
NM_030962.4(SBF2):c.1860+10A>G rs778305149
NM_030962.4(SBF2):c.3652+6C>T rs1057524041
NM_030962.4(SBF2):c.3979-4G>T rs375742620
NM_030962.4(SBF2):c.455T>G (p.Leu152Trp) rs1554990623
NM_030962.4(SBF2):c.492C>G (p.Val164=) rs559769224
NM_030962.4(SBF2):c.753-16T>C rs7128234
NM_030962.4(SBF2):c.807A>T (p.Pro269=) rs1057521879
NM_030962.4(SBF2):c.862-9C>A rs1554979581
NM_030962.4(SBF2):c.873C>T (p.Ile291=) rs2134496815

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