ClinVar Miner

List of variants in gene SBF1 reported as likely benign for Charcot-Marie-Tooth disease, type 4B3

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Total variants: 13
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NM_002972.4(SBF1):c.219C>T (p.Ile73=) rs750211528
NM_002972.4(SBF1):c.2569+4C>T rs200379541
NM_002972.4(SBF1):c.3399C>T (p.Leu1133=)
NM_002972.4(SBF1):c.3462G>T (p.Pro1154=)
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055
NM_002972.4(SBF1):c.3905-9C>T rs574807761
NM_002972.4(SBF1):c.4521C>T (p.Pro1507=) rs534889802
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=) rs570393243
NM_002972.4(SBF1):c.5595G>A (p.Thr1865=)
NM_002972.4(SBF1):c.651G>A (p.Gln217=)
NM_002972.4(SBF1):c.898-4G>A rs377428323

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