ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_030962.3(SBF2):c.2109T>C (p.Leu703=) rs0
NM_030962.3(SBF2):c.2319G>A (p.Ala773=) rs201547070
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2536+16A>T rs0
NM_030962.3(SBF2):c.2598G>A (p.Pro866=) rs376372877
NM_030962.3(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.3(SBF2):c.2619T>C (p.Ile873=) rs0
NM_030962.3(SBF2):c.3450C>T (p.Cys1150=) rs377608130

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