ClinVar Miner

List of variants in gene MAN2B1 reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.*42G>A rs149101136 0.00673
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00041
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00027
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032

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