ClinVar Miner

List of variants in gene MAN1B1 reported as uncertain significance for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 170
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HGVS dbSNP gnomAD frequency
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=) rs145704211 0.00151
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.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_016219.5(MAN1B1):c.1744C>T (p.Arg582Cys) rs142406504 0.00046
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met) rs200428790 0.00029
NM_016219.5(MAN1B1):c.862G>A (p.Gly288Ser) rs138090529 0.00026
NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val) rs144767615 0.00024
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.514C>T (p.Pro172Ser) rs142144025 0.00016
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.770T>C (p.Phe257Ser) rs768668950 0.00013
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
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.1738C>G (p.Pro580Ala) rs200860565 0.00008
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.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.874A>G (p.Ile292Val) rs573043401 0.00006
NM_016219.5(MAN1B1):c.*185T>G rs137960366 0.00005
NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile) rs199561708 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.1556G>T (p.Ser519Ile) rs763074368 0.00003
NM_016219.5(MAN1B1):c.1895G>A (p.Arg632Gln) rs368503703 0.00003
NM_016219.5(MAN1B1):c.302A>G (p.Tyr101Cys) rs748988185 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.2056T>C (p.Phe686Leu) rs754917525 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.776A>G (p.His259Arg) rs201673635 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.1001G>A (p.Arg334His) rs1476136894 0.00001
NM_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr) rs184782012 0.00001
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=) rs776601946 0.00001
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885 0.00001
NM_016219.5(MAN1B1):c.1216C>T (p.Arg406Trp) rs1037141680 0.00001
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=) rs751469511 0.00001
NM_016219.5(MAN1B1):c.1565T>C (p.Met522Thr) rs764475116 0.00001
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=) rs754107444 0.00001
NM_016219.5(MAN1B1):c.1687A>G (p.Met563Val) rs770987752 0.00001
NM_016219.5(MAN1B1):c.1765-20G>C rs1225685090 0.00001
NM_016219.5(MAN1B1):c.1811T>G (p.Leu604Arg) rs776114448 0.00001
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe) rs777270726 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.2083A>G (p.Ile695Val) rs963979748 0.00001
NM_016219.5(MAN1B1):c.430A>G (p.Thr144Ala) rs763520482 0.00001
NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile) rs763744643 0.00001
NM_016219.5(MAN1B1):c.466-12A>G rs760066464 0.00001
NM_016219.5(MAN1B1):c.561A>C (p.Lys187Asn) rs534967836 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
NC_000009.11:g.(?_140000557)_(140003043_?)dup
NM_016219.5(MAN1B1):c.*258C>T rs755189897
NM_016219.5(MAN1B1):c.*470C>T rs558804715
NM_016219.5(MAN1B1):c.*498G>C rs886063734
NM_016219.5(MAN1B1):c.1013G>C (p.Gly338Ala)
NM_016219.5(MAN1B1):c.1013G>T (p.Gly338Val)
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys) rs1038179177
NM_016219.5(MAN1B1):c.1062A>C (p.Lys354Asn) rs756197449
NM_016219.5(MAN1B1):c.1071T>A (p.Asp357Glu)
NM_016219.5(MAN1B1):c.1091C>A (p.Pro364His)
NM_016219.5(MAN1B1):c.1157C>T (p.Pro386Leu)
NM_016219.5(MAN1B1):c.1217G>A (p.Arg406Gln)
NM_016219.5(MAN1B1):c.1292T>C (p.Leu431Pro)
NM_016219.5(MAN1B1):c.1297G>T (p.Gly433Trp)
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu) rs774769293
NM_016219.5(MAN1B1):c.1306G>C (p.Asp436His)
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
NM_016219.5(MAN1B1):c.1331A>G (p.Asn444Ser)
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
NM_016219.5(MAN1B1):c.1445+6G>T
NM_016219.5(MAN1B1):c.1447CTG[3] (p.Leu484_Glu485insLeu)
NM_016219.5(MAN1B1):c.1457A>G (p.Asp486Gly)
NM_016219.5(MAN1B1):c.1474G>A (p.Glu492Lys)
NM_016219.5(MAN1B1):c.1474G>C (p.Glu492Gln) rs775259244
NM_016219.5(MAN1B1):c.1480G>A (p.Val494Ile)
NM_016219.5(MAN1B1):c.1489C>T (p.His497Tyr)
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=) rs1168317937
NM_016219.5(MAN1B1):c.1618G>A (p.Gly540Ser)
NM_016219.5(MAN1B1):c.1621C>T (p.Leu541=) rs886063730
NM_016219.5(MAN1B1):c.1633C>A (p.His545Asn)
NM_016219.5(MAN1B1):c.1648C>G (p.Gln550Glu)
NM_016219.5(MAN1B1):c.1676T>C (p.Met559Thr)
NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys) rs1017935955
NM_016219.5(MAN1B1):c.1682G>A (p.Arg561Gln)
NM_016219.5(MAN1B1):c.1696G>C (p.Gly566Arg)
NM_016219.5(MAN1B1):c.1748G>A (p.Arg583Gln)
NM_016219.5(MAN1B1):c.1790G>A (p.Arg597Gln)
NM_016219.5(MAN1B1):c.1792C>T (p.Pro598Ser)
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn) rs929390325
NM_016219.5(MAN1B1):c.1823A>T (p.Tyr608Phe)
NM_016219.5(MAN1B1):c.1840C>G (p.Arg614Gly)
NM_016219.5(MAN1B1):c.1881C>T (p.Phe627=) rs886063731
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile) rs797045687
NM_016219.5(MAN1B1):c.1886G>A (p.Arg629Gln)
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=) rs114484315
NM_016219.5(MAN1B1):c.1913A>G (p.Tyr638Cys)
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=) rs34355967
NM_016219.5(MAN1B1):c.1946A>G (p.Lys649Arg)
NM_016219.5(MAN1B1):c.1951G>A (p.Glu651Lys)
NM_016219.5(MAN1B1):c.1987G>A (p.Glu663Lys) rs371136351
NM_016219.5(MAN1B1):c.2039G>C (p.Ser680Thr)
NM_016219.5(MAN1B1):c.2046_2047inv (p.Ala683Thr)
NM_016219.5(MAN1B1):c.2064C>T (p.Thr688=)
NM_016219.5(MAN1B1):c.2069C>T (p.Ala690Val)
NM_016219.5(MAN1B1):c.2093C>T (p.Pro698Leu)
NM_016219.5(MAN1B1):c.223T>C (p.Trp75Arg)
NM_016219.5(MAN1B1):c.232C>G (p.Leu78Val) rs1830422438
NM_016219.5(MAN1B1):c.247C>T (p.Arg83Trp)
NM_016219.5(MAN1B1):c.256A>G (p.Ile86Val)
NM_016219.5(MAN1B1):c.298T>G (p.Phe100Val)
NM_016219.5(MAN1B1):c.329-9G>C
NM_016219.5(MAN1B1):c.329C>T (p.Ala110Val)
NM_016219.5(MAN1B1):c.410C>T (p.Pro137Leu)
NM_016219.5(MAN1B1):c.439G>C (p.Glu147Gln)
NM_016219.5(MAN1B1):c.441G>A (p.Glu147=) rs886063727
NM_016219.5(MAN1B1):c.482T>C (p.Ile161Thr) rs2131002805
NM_016219.5(MAN1B1):c.487C>T (p.Arg163Trp)
NM_016219.5(MAN1B1):c.526G>A (p.Asp176Asn)
NM_016219.5(MAN1B1):c.527A>T (p.Asp176Val) rs886063728
NM_016219.5(MAN1B1):c.536A>G (p.Asp179Gly) rs2131002949
NM_016219.5(MAN1B1):c.587G>T (p.Arg196Leu) rs200410163
NM_016219.5(MAN1B1):c.631G>A (p.Ala211Thr)
NM_016219.5(MAN1B1):c.632C>T (p.Ala211Val)
NM_016219.5(MAN1B1):c.671G>A (p.Arg224Lys)
NM_016219.5(MAN1B1):c.677C>G (p.Ala226Gly) rs145554887
NM_016219.5(MAN1B1):c.677C>T (p.Ala226Val)
NM_016219.5(MAN1B1):c.730+5G>A
NM_016219.5(MAN1B1):c.731-8C>T rs375902720
NM_016219.5(MAN1B1):c.746G>A (p.Arg249His)
NM_016219.5(MAN1B1):c.757G>A (p.Val253Met)
NM_016219.5(MAN1B1):c.817G>A (p.Glu273Lys)
NM_016219.5(MAN1B1):c.880G>A (p.Ala294Thr)
NM_016219.5(MAN1B1):c.892A>G (p.Met298Val)
NM_016219.5(MAN1B1):c.970G>A (p.Val324Met)
NM_016219.5(MAN1B1):c.973G>A (p.Asp325Asn)
NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala) rs546612497

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