ClinVar Miner

List of variants in gene IGHMBP2 reported as pathogenic for not provided

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Total variants: 17
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.1060+2T>C rs879253886
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2197_2203delATAGTGGinsCA (p.Ile733Glnfs) rs886042313
NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930
NM_002180.2(IGHMBP2):c.242del (p.Asn81Thrfs)
NM_002180.2(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.2(IGHMBP2):c.2598_2599delGA (p.Lys868Serfs) rs886043774
NM_002180.2(IGHMBP2):c.2911_2912delAG (p.Arg971Glufs) rs724159994
NM_002180.2(IGHMBP2):c.292_303delGGCAGTCAGCTGinsATGCT (p.Gly98Metfs) rs1131691657
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543

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