ClinVar Miner

List of variants studied for Deficiency of alpha-mannosidase by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.33916
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.29947
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487

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