ClinVar Miner

List of variants in gene combination IGHMBP2, LOC126861245 reported as likely benign by Molecular Genetics Laboratory, London Health Sciences Centre

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316 0.00124
NM_002180.3(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628 0.00062
NM_002180.3(IGHMBP2):c.1538-19G>A rs199911239 0.00004
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=) rs988590959 0.00001
NM_002180.3(IGHMBP2):c.1538-11_1538-8del rs1566444289

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