ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease, axonal, type 2S by Baylor Genetics

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Total variants: 7
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.449+1G>A rs797044802
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551
NM_002180.3(IGHMBP2):c.1537+5G>A
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.727C>T (p.Pro243Ser)

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