ClinVar Miner

List of variants in gene SBF2 reported as benign for Charcot-Marie-Tooth disease, type 4B2

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Gene type:
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Total variants: 23
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NM_030962.3(SBF2):c.*1144A>G rs3751001
NM_030962.3(SBF2):c.*1364C>T rs10118
NM_030962.3(SBF2):c.*1399T>C rs60154961
NM_030962.3(SBF2):c.*1413A>G rs59613534
NM_030962.3(SBF2):c.*1515G>A rs1045634
NM_030962.3(SBF2):c.*1619A>C rs360126
NM_030962.3(SBF2):c.*177A>C rs192542785
NM_030962.3(SBF2):c.*291C>T rs114604750
NM_030962.3(SBF2):c.*40A>C rs3751000
NM_030962.3(SBF2):c.*514C>T rs3829252
NM_030962.3(SBF2):c.*51T>C rs41275194
NM_030962.3(SBF2):c.-118G>T rs563422015
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
NM_030962.3(SBF2):c.3794-20C>T rs116966215
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_030962.3(SBF2):c.645T>C (p.Phe215=) rs148187321
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159

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