ClinVar Miner

List of variants in gene IGHMBP2 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 6
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NM_002180.2(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs) rs886042313
NM_002180.2(IGHMBP2):c.242del (p.Asn81fs) rs1249076926
NM_002180.2(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.2(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774

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