ClinVar Miner

List of variants in gene SBF2 studied for Charcot-Marie-Tooth disease type 4B2

Included ClinVar conditions (2):
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Total variants: 10
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NM_030962.3(SBF2):c.1024C>T (p.Arg342Ter) rs1565106242
NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.3(SBF2):c.3935G>A (p.Arg1312Gln)
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.5014_5016del (p.Lys1672del) rs750958357
NM_030962.3(SBF2):c.5041C>T (p.Gln1681Ter) rs1343702415
NM_030962.3(SBF2):c.753-16T>A rs7128234
SBF2, EX11-12DEL

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