ClinVar Miner

List of variants in gene IGHMBP2 reported as pathogenic by OMIM

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Total variants: 15
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HGVS dbSNP
NG_007976.1:g.(7904_7936)_(26407_26439)del
NM_002180.2(IGHMBP2):c.1107C>G (p.Phe369Leu) rs137852670
NM_002180.2(IGHMBP2):c.1118T>G (p.Val373Gly) rs724159959
NM_002180.2(IGHMBP2):c.121C>T (p.Gln41Ter) rs137852668
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.1582G>A (p.Ala528Thr) rs724159960
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.2911_2912delAG (p.Arg971Glufs) rs724159994
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.604T>G (p.Phe202Val) rs724159958
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.2(IGHMBP2):c.675del (p.Glu226Argfs) rs786205089
NM_002180.2(IGHMBP2):c.707T>G (p.Leu236Ter) rs137852669

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