List of variants in gene IGHMBP2 reported as pathogenic for Inborn genetic diseases

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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.1488C>A (p.Cys496Ter)	rs145226920	0.00016
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	rs201060167	0.00008
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)	rs773242930	0.00004
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)	rs780594709	0.00003
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	rs372000714	0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)	rs1324667543	0.00001
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)	rs776730737
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	rs724159994
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)	rs886037759

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