ClinVar Miner

List of variants in gene MAN2B1 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487

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