ClinVar Miner

List of variants in gene IGHMBP2 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364 0.00006
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838 0.00001
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002180.3(IGHMBP2):c.10G>A (p.Ala4Thr) rs1333262915
NM_002180.3(IGHMBP2):c.2440C>A (p.Gln814Lys) rs1566447207
NM_002180.3(IGHMBP2):c.920A>G (p.Asn307Ser) rs1470463698

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