ClinVar Miner

List of variants in gene MAN1B1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu) rs147577332 0.00118
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_016219.5(MAN1B1):c.1744C>T (p.Arg582Cys) rs142406504 0.00046
NM_016219.5(MAN1B1):c.1287C>T (p.His429=) rs145524720 0.00038
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met) rs200428790 0.00029
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His) rs374247020 0.00014
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val) rs144672735 0.00011
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys) rs373430024 0.00011
NM_016219.5(MAN1B1):c.1738C>G (p.Pro580Ala) rs200860565 0.00008
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile) rs143449562 0.00006
NM_016219.5(MAN1B1):c.1363G>A (p.Val455Ile) rs201323382 0.00004
NM_016219.5(MAN1B1):c.1825C>T (p.Arg609Cys) rs377707640 0.00003
NM_016219.5(MAN1B1):c.466-4A>G rs766062319 0.00003
NM_016219.5(MAN1B1):c.1764+9G>C rs377406887 0.00002
NM_016219.5(MAN1B1):c.719A>G (p.Gln240Arg) rs587780390 0.00002
NM_016219.5(MAN1B1):c.776A>G (p.His259Arg) rs201673635 0.00002
NM_016219.5(MAN1B1):c.1228C>T (p.Arg410Cys) rs147718581 0.00001
NM_016219.5(MAN1B1):c.1285C>T (p.His429Tyr) rs769255216 0.00001
NM_016219.5(MAN1B1):c.639C>T (p.Ile213=) rs368545529 0.00001
NM_016219.5(MAN1B1):c.1566+3dup rs1554758759
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile) rs797045687
NM_016219.5(MAN1B1):c.734A>G (p.His245Arg) rs773597890

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