ClinVar Miner

List of variants in gene IGHMBP2 reported as likely pathogenic for not provided

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773 0.00001
NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn) rs779654686 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.2611+1G>T rs786205090 0.00001
NM_002180.3(IGHMBP2):c.547+1G>A rs1057518588 0.00001
GRCh37/hg19 11q13.3(chr11:68682291-68682491)x1
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met) rs2154008642
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu) rs368775789
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly) rs1465803265
NM_002180.3(IGHMBP2):c.2125C>T (p.Gln709Ter) rs2154008868
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs) rs1225532037
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.3(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504

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