ClinVar Miner

List of variants in gene IGHMBP2 reported as likely pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 5
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NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr) rs724159960
NM_002180.2(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588

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