ClinVar Miner

List of variants in gene combination LOC101928008, SBF2 reported as pathogenic for Charcot-Marie-Tooth disease type 4

Included ClinVar conditions (30):
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.1879G>T (p.Glu627Ter) rs1433023728 0.00001
NM_030962.4(SBF2):c.2668C>T (p.Arg890Ter) rs1413469900 0.00001
NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter) rs1564923441
NM_030962.4(SBF2):c.2055T>G (p.Tyr685Ter) rs2134006623
NM_030962.4(SBF2):c.2287dup (p.Thr763fs)
NM_030962.4(SBF2):c.2536+1G>A rs1060500001
NM_030962.4(SBF2):c.2655_2658del (p.Cys886fs)
NM_030962.4(SBF2):c.2850_2851insGCCT (p.Thr951fs)
NM_030962.4(SBF2):c.2875C>T (p.Gln959Ter) rs120074137
NM_030962.4(SBF2):c.3336del (p.Ala1113fs)

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