List of variants in gene IGHMBP2 reported as likely pathogenic for Charcot-Marie-Tooth disease

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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HGVS	dbSNP
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser)	rs886043773
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)	rs759641927
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.1633-2A>G	rs1566445029
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn)	rs770111639
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)	rs137852667
NM_002180.2(IGHMBP2):c.257-2A>G	rs1566424655
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr)	rs886037759
NM_002180.2(IGHMBP2):c.449+1G>T	rs797044802
NM_002180.2(IGHMBP2):c.547+1G>A	rs1057518588
NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu)	rs777575504
NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs)	rs746581714

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