ClinVar Miner

List of variants in gene IGHMBP2 reported as likely pathogenic for Charcot-Marie-Tooth disease, axonal, type 2S

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Total variants: 5
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714

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