ClinVar Miner

List of variants reported for Charcot-Marie-Tooth disease axonal type 2S by Biochemistry Laboratory of CDMU, Chengde Medical University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_002180.3(IGHMBP2):c.1202A>G (p.His401Arg) rs1566439723

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