ClinVar Miner

List of variants in gene SBF2 reported as pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
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Gene type:
ClinVar version:
Total variants: 12
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NM_030962.3(SBF2):c.1459C>T (p.Arg487Ter) rs120074139
NM_030962.3(SBF2):c.192_193dup (p.Phe65fs)
NM_030962.3(SBF2):c.20_21del (p.Tyr7fs) rs1270869520
NM_030962.3(SBF2):c.3526C>T (p.Arg1176Ter) rs774667470
NM_030962.3(SBF2):c.3586C>T (p.Arg1196Ter) rs120074138
NM_030962.3(SBF2):c.4443+1G>A rs1564872328
NM_030962.3(SBF2):c.4443+1G>C rs1564872328
NM_030962.3(SBF2):c.5037+1G>A rs1060499999
NM_030962.3(SBF2):c.5203C>T (p.Gln1735Ter) rs1590076969
NM_030962.3(SBF2):c.754_823del (p.Tyr252fs) rs1565115957
SBF2, EX11-12DEL

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