ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 4B2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.4571-6C>T rs2645029 0.88084
NM_030962.4(SBF2):c.3455+36C>T rs7483882 0.79947
NM_030962.4(SBF2):c.*1364C>T rs10118 0.63186
NM_030962.4(SBF2):c.4156-46C>T rs11042500 0.43551
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.753-16T>A rs7128234 0.18140
NM_030962.4(SBF2):c.2035G>A (p.Glu679Lys) rs7102464 0.08286
NM_030962.4(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508 0.07978
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.*1144A>G rs3751001 0.04377
NM_030962.4(SBF2):c.4933-15T>C rs75447733 0.03044
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.02037
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01676
NM_030962.4(SBF2):c.2850C>T (p.Ile950=) rs74642088 0.01620
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.*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.93T>C (p.Phe31=) rs200263159 0.00003
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652

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