ClinVar Miner

List of variants in gene SBF2 reported as benign

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.4156-183T>A rs10770066 0.91265
NM_030962.4(SBF2):c.3979-148T>C rs4910066 0.84353
NM_030962.4(SBF2):c.3979-173G>C rs4910506 0.84350
NM_030962.4(SBF2):c.*1364C>T rs10118 0.63186
NM_030962.4(SBF2):c.3978+152T>C rs7937716 0.52057
NM_030962.4(SBF2):c.1167+165_1167+166dup rs60479663 0.51994
NM_030962.4(SBF2):c.1711-158dup rs35824679 0.50850
NM_030962.4(SBF2):c.976-248T>C rs11042583 0.47284
NM_030962.4(SBF2):c.4156-46C>T rs11042500 0.43551
NM_030962.4(SBF2):c.1710+287T>A rs7933475 0.38527
NM_030962.4(SBF2):c.56-64G>A rs4910097 0.36543
NM_030962.4(SBF2):c.*514C>T rs3829252 0.33836
NM_030962.4(SBF2):c.*1515G>A rs1045634 0.33744
NM_030962.4(SBF2):c.*40A>C rs3751000 0.30738
NM_030962.4(SBF2):c.3653-288G>A rs67554498 0.29993
NM_030962.4(SBF2):c.3653-233C>T rs16907122 0.28385
NM_030962.4(SBF2):c.141+275G>A rs11042662 0.27280
NM_030962.4(SBF2):c.1711-84G>A rs2403226 0.27044
NM_030962.4(SBF2):c.4155+91T>C rs4910065 0.23354
NM_030962.4(SBF2):c.514-53A>T rs10840344 0.20341
NM_030962.4(SBF2):c.620-75T>C rs10500716 0.20242
NM_030962.4(SBF2):c.753-16T>A rs7128234 0.18140
NM_030962.4(SBF2):c.1711-85C>T rs7117364 0.11378
NM_030962.4(SBF2):c.1601-327T>C rs72855680 0.11371
NM_030962.4(SBF2):c.1860+58A>G rs61876983 0.11364
NM_030962.4(SBF2):c.619+247G>A rs61877046 0.10857
NM_030962.4(SBF2):c.141+286A>G rs11042661 0.10583
NM_030962.4(SBF2):c.1601-307G>A rs72855678 0.10531
NM_030962.4(SBF2):c.56-262T>A rs61892572 0.10331
NM_030962.4(SBF2):c.619+199C>T rs72858828 0.10029
NM_030962.4(SBF2):c.619+205T>C rs72858826 0.10009
NM_030962.4(SBF2):c.3456-145T>C rs12578023 0.08023
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
NM_030962.4(SBF2):c.1395+80T>G rs11826263 0.07170
NM_030962.4(SBF2):c.*1619A>C rs360126 0.06256
NM_030962.4(SBF2):c.909C>T (p.Pro303=) rs16907355 0.05858
NM_030962.4(SBF2):c.1167+75G>T rs56223901 0.05837
NM_030962.4(SBF2):c.1296+193T>C rs72857155 0.05569
NM_030962.4(SBF2):c.1167+74C>T rs78399419 0.05228
NM_030962.4(SBF2):c.1296+290G>A rs72857152 0.05047
NM_030962.4(SBF2):c.*1144A>G rs3751001 0.04377
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.02037
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_030962.4(SBF2):c.*1399T>C rs60154961 0.01504
NM_030962.4(SBF2):c.*1413A>G rs59613534 0.01502
NM_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_030962.4(SBF2):c.*177A>C rs192542785 0.00872
NM_030962.4(SBF2):c.*291C>T rs114604750 0.00828
NM_030962.4(SBF2):c.*51T>C rs41275194 0.00749
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
NM_030962.4(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577 0.00548
NM_030962.4(SBF2):c.-118G>T rs563422015 0.00491
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.4111G>C (p.Val1371Leu) rs149501654 0.00074
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.651A>G (p.Ala217=) rs200293270 0.00019
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.514-12C>T rs770141264 0.00016
NM_030962.4(SBF2):c.1601-20T>C rs200518136 0.00004
NM_030962.4(SBF2):c.93T>C (p.Phe31=) rs200263159 0.00003
GRCh37/hg19 11p15.4(chr11:10129950-10211233)x1
GRCh37/hg19 11p15.4(chr11:9938475-9942432)x1
GRCh37/hg19 11p15.4(chr11:9938475-9944824)x1
NM_030962.4(SBF2):c.1054-293_1054-286dup rs11281911
NM_030962.4(SBF2):c.1168-13del
NM_030962.4(SBF2):c.142-14del
NM_030962.4(SBF2):c.142-14dup rs530695547
NM_030962.4(SBF2):c.1711-266A>C rs7110027
NM_030962.4(SBF2):c.3456-22_3456-18del rs751512324
NM_030962.4(SBF2):c.3652+9CT[2] rs376260584
NM_030962.4(SBF2):c.403-5del
NM_030962.4(SBF2):c.4443+224C>G rs17353206
NM_030962.4(SBF2):c.4444-212dup rs11416768
NM_030962.4(SBF2):c.492C>G (p.Val164=) rs559769224
NM_030962.4(SBF2):c.56-182A>G rs4515960
NM_030962.4(SBF2):c.752+245_752+246insTTTTAACTGTA rs150124583
NM_030962.4(SBF2):c.862-12dup rs766293143
NM_030962.4(SBF2):c.862-238A>G rs2896515

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