ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease, type 4B3 by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 13
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HGVS dbSNP
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala) rs746439204
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) rs188976869
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) rs199705951
NM_002972.4(SBF1):c.2663G>A (p.Arg888His)
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile) rs370463792
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491
NM_002972.4(SBF1):c.3251C>T (p.Pro1084Leu)
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) rs200718883
NM_002972.4(SBF1):c.4517C>T (p.Thr1506Ile)
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp) rs370182117
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) rs373534319
NM_002972.4(SBF1):c.55G>C (p.Gly19Arg)

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