ClinVar Miner

List of variants reported as uncertain significance for Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S by Fulgent Genetics,Fulgent Genetics

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Total variants: 3
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NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529
NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354
NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207

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