ClinVar Miner

List of variants in gene IGHMBP2 reported as likely pathogenic by Service de Pédiatrie - Neurologie et infectiologie - Toulouse,CHU de Toulouse - Hôpital des Enfants

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Gene type:
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Total variants: 3
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.1418+1G>C rs1160978570
NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu) rs879253887
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588

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