ClinVar Miner

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

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Total variants: 6
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NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) rs7102464
NM_030962.3(SBF2):c.2337C>T (p.Ser779=) rs140730386
NM_030962.3(SBF2):c.2611-35AATC[4] rs202029370
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.3111-6T>C rs16907139
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652

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