ClinVar Miner

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

Included ClinVar conditions (127):
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly) rs724159959
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)
NM_002180.2(IGHMBP2):c.1202A>G (p.His401Arg)
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439Aspfs)
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter)
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr) rs724159960
NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.2(IGHMBP2):c.1681dup (p.Ile561Asnfs) rs1555247732
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter)
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.2784+1G>T rs797044803
NM_002180.2(IGHMBP2):c.2911_2912delAG (p.Arg971Glufs) rs724159994
NM_002180.2(IGHMBP2):c.449+1G>A rs797044802
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter)

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