ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01884
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=) rs141112920 0.00215
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=) rs144271949 0.00210
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
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.1229G>A (p.Arg410His) rs145477274 0.00085
NM_016219.5(MAN1B1):c.1095C>T (p.Ala365=) rs144304981 0.00083
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.1950C>T (p.Pro650=) rs377461918 0.00013
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.1764+9G>C rs377406887 0.00003
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.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.530_542del (p.Leu177fs) rs797045688
NM_016219.5(MAN1B1):c.734A>G (p.His245Arg) rs773597890

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