List of variants in gene IGHMBP2 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter)	rs200089714	0.00003
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)	rs770111639	0.00002
NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	rs199839840	0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)	rs1324667543	0.00001
NM_002180.3(IGHMBP2):c.547+1G>A	rs1057518588	0.00001
NM_002180.3(IGHMBP2):c.1917del (p.Phe640fs)
NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs)	rs754422011
NM_002180.3(IGHMBP2):c.647C>A (p.Pro216His)	rs1594422676
NM_002180.3(IGHMBP2):c.675del (p.Glu226fs)	rs786205089

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