ClinVar Miner

List of variants in gene MAN1B1 reported by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 105
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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.*384A>G rs4567 0.49708
NM_016219.4(MAN1B1):c.*597G>A rs7853336 0.34514
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.*157C>G rs61545361 0.02001
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.347A>G (p.Glu116Gly) rs115335100 0.00943
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_016219.5(MAN1B1):c.*223G>A rs141959719 0.00488
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=) rs140105878 0.00457
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=) rs114484315 0.00344
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00330
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=) rs115889896 0.00329
NM_016219.5(MAN1B1):c.1896+7A>G rs143544706 0.00329
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=) rs77684216 0.00327
NM_016219.5(MAN1B1):c.1897-12G>A rs76740252 0.00322
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795 0.00172
NM_016219.5(MAN1B1):c.*393A>G rs575316488 0.00170
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.304A>C (p.Ile102Leu) rs149322865 0.00087
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_016219.5(MAN1B1):c.*292G>A rs145815566 0.00034
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=) rs112434939 0.00026
NM_016219.5(MAN1B1):c.*553A>G rs754678273 0.00016
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=) rs377461918 0.00013
NM_016219.5(MAN1B1):c.770T>C (p.Phe257Ser) rs768668950 0.00013
NM_016219.5(MAN1B1):c.768C>T (p.Val256=) rs145906530 0.00012
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.1753G>A (p.Val585Met) rs150734795 0.00009
NM_016219.5(MAN1B1):c.621-5C>T rs200585294 0.00009
NM_016219.5(MAN1B1):c.1065+11T>C rs200147487 0.00007
NM_016219.5(MAN1B1):c.*113G>A rs762819985 0.00006
NM_016219.5(MAN1B1):c.*86C>T rs771691552 0.00006
NM_016219.5(MAN1B1):c.1445+10G>A rs200441545 0.00006
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser) rs375378489 0.00006
NM_016219.5(MAN1B1):c.1765-9C>T rs977693376 0.00006
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile) rs143449562 0.00006
NM_016219.5(MAN1B1):c.*185T>G rs137960366 0.00005
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys) rs387906886 0.00005
NM_016219.5(MAN1B1):c.*191G>A rs1035235945 0.00004
NM_016219.5(MAN1B1):c.1180A>G (p.Thr394Ala) rs369551783 0.00004
NM_016219.5(MAN1B1):c.1321A>G (p.Met441Val) rs752395239 0.00004
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys) rs757690679 0.00004
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=) rs372125925 0.00004
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=) rs558619741 0.00004
NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala) rs575503145 0.00004
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=) rs199738190 0.00004
NM_016219.5(MAN1B1):c.620+9C>T rs535697514 0.00004
NM_016219.5(MAN1B1):c.*62A>G rs963031485 0.00003
NM_016219.5(MAN1B1):c.488G>A (p.Arg163Gln) rs765008747 0.00003
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=) rs777042053 0.00003
NM_016219.5(MAN1B1):c.936G>T (p.Lys312Asn) rs376305905 0.00003
NM_016219.5(MAN1B1):c.*259G>A rs886063732 0.00002
NM_016219.5(MAN1B1):c.*489G>A rs572418621 0.00002
NM_016219.5(MAN1B1):c.1255-13C>T rs765403325 0.00002
NM_016219.5(MAN1B1):c.1546G>A (p.Gly516Ser) rs760557104 0.00002
NM_016219.5(MAN1B1):c.603G>A (p.Pro201=) rs779234844 0.00002
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=) rs564784943 0.00002
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=) rs202157161 0.00002
NM_016219.5(MAN1B1):c.*389C>G rs1489403973 0.00001
NM_016219.5(MAN1B1):c.*404T>C rs759863657 0.00001
NM_016219.5(MAN1B1):c.*587C>G rs946716926 0.00001
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=) rs776601946 0.00001
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=) rs754107444 0.00001
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys) rs756140103 0.00001
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=) rs150436630 0.00001
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=) rs746212127 0.00001
NM_016219.5(MAN1B1):c.430A>G (p.Thr144Ala) rs763520482 0.00001
NM_016219.5(MAN1B1):c.678A>C (p.Ala226=) rs1430903884 0.00001
NM_016219.5(MAN1B1):c.780A>G (p.Ala260=) rs151136979 0.00001
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=) rs750236367 0.00001
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp) rs777884272 0.00001
NM_016219.5(MAN1B1):c.*258C>T rs755189897
NM_016219.5(MAN1B1):c.*470C>T rs558804715
NM_016219.5(MAN1B1):c.*488dup rs71803786
NM_016219.5(MAN1B1):c.*498G>C rs886063734
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu) rs774769293
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=) rs1168317937
NM_016219.5(MAN1B1):c.1621C>T (p.Leu541=) rs886063730
NM_016219.5(MAN1B1):c.1881C>T (p.Phe627=) rs886063731
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=) rs114484315
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=) rs34355967
NM_016219.5(MAN1B1):c.232C>G (p.Leu78Val) rs1830422438
NM_016219.5(MAN1B1):c.441G>A (p.Glu147=) rs886063727
NM_016219.5(MAN1B1):c.527A>T (p.Asp176Val) rs886063728
NM_016219.5(MAN1B1):c.684G>A (p.Val228=) rs886063729
NM_016219.5(MAN1B1):c.731-8C>T rs375902720

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