ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 4B2 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00276
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_030962.4(SBF2):c.2319G>A (p.Ala773=) rs201547070 0.00014
NM_030962.4(SBF2):c.2085G>A (p.Pro695=) rs148241076 0.00009
NM_030962.4(SBF2):c.2436C>T (p.Ala812=) rs374225152 0.00007
NM_030962.4(SBF2):c.4933-20A>G rs373502043 0.00005
NM_030962.4(SBF2):c.1893C>T (p.Ala631=) rs760154688 0.00001
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=) rs1347990916 0.00001
NM_030962.4(SBF2):c.1863T>C (p.Asp621=) rs757280038
NM_030962.4(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832

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