List of variants in gene IGHMBP2 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
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: 6

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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.127C>T (p.Arg43Ter)	rs200089714	0.00003
NM_002180.3(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs)	rs886042313
NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)	rs1249076926
NM_002180.3(IGHMBP2):c.2560C>T (p.Gln854Ter)	rs750024353
NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)	rs886043774

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