ClinVar Miner

List of variants in gene MAN2B1 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 13
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HGVS dbSNP
NM_000528.4(MAN2B1):c.1068C>A (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1109+3A>G rs794727905
NM_000528.4(MAN2B1):c.1223T>A (p.Phe408Tyr) rs398123452
NM_000528.4(MAN2B1):c.1224C>A (p.Phe408Leu) rs398123453
NM_000528.4(MAN2B1):c.1796G>T (p.Arg599Ile) rs181476648
NM_000528.4(MAN2B1):c.1928+10G>C rs200579436
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2311G>A (p.Val771Met) rs140843669
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His) rs794727484
NM_000528.4(MAN2B1):c.355G>C (p.Val119Leu) rs201140883
NM_000528.4(MAN2B1):c.368TCT[1] (p.Phe124del) rs398123458
NM_000528.4(MAN2B1):c.444G>A (p.Leu148=) rs794727626

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