List of variants in gene IGHMBP2 reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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: 12

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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.1813C>T (p.Arg605Ter)	rs991227431	0.00001
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)	rs1324667543	0.00001
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)	rs750994603
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.388C>T (p.Arg130Ter)	rs972425138
NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)	rs1566430156
NM_002180.3(IGHMBP2):c.983_987del (p.Lys328fs)	rs746581714

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