ClinVar Miner

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

Minimum submission review status:		Collection method:
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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: 3

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HGVS	dbSNP
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His)	rs151079750
NM_002180.3(IGHMBP2):c.1061-1G>C
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	rs724159994

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