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

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	rs145226920	0.00016
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	rs201060167	0.00008
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	rs372000714	0.00001
NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter)	rs137852669	0.00001
NM_002180.3(IGHMBP2):c.1118T>G (p.Val373Gly)	rs724159959
NM_002180.3(IGHMBP2):c.1202A>G (p.His401Arg)	rs1566439723
NM_002180.3(IGHMBP2):c.1235+894C>A	rs1202430946
NM_002180.3(IGHMBP2):c.2436del (p.Ala813fs)	rs1594456890
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)	rs1225532037
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)	rs886043774
NM_002180.3(IGHMBP2):c.2599A>T (p.Lys867Ter)
NM_002180.3(IGHMBP2):c.2796del (p.Cys932fs)	rs2154009273
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	rs724159994
NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs)	rs1131691657
NM_002180.3(IGHMBP2):c.449+1G>A	rs797044802
NM_002180.3(IGHMBP2):c.449+1G>T	rs797044802
NM_002180.3(IGHMBP2):c.541G>T (p.Glu181Ter)
NM_002180.3(IGHMBP2):c.604T>G (p.Phe202Val)	rs724159958
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)	rs137852666

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