ClinVar Miner

List of variants in gene combination LOC105369149, SBF2 reported as likely benign for Charcot-Marie-Tooth disease type 4B2

Included ClinVar conditions (1):
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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_030962.4(SBF2):c.5037+12A>G rs372500490 0.00009
NM_030962.4(SBF2):c.5231+14C>T rs371184526 0.00008
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832

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