List of variants in gene MAN1B1 reported as likely benign for autosomal recessive non-syndromic intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 171

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HGVS	dbSNP	gnomAD frequency
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=)	rs34355967	0.00892
NM_016219.5(MAN1B1):c.*223G>A	rs141959719	0.00488
NM_016219.5(MAN1B1):c.1566+14C>T	rs201606936	0.00440
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=)	rs142928152	0.00371
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=)	rs113389928	0.00340
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln)	rs149339002	0.00309
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.272C>T (p.Ala91Val)	rs138411911	0.00135
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu)	rs147529965	0.00135
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)	rs147577332	0.00118
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.1287C>T (p.His429=)	rs145524720	0.00038
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.1312C>T (p.Leu438=)	rs150942110	0.00016
NM_016219.5(MAN1B1):c.2091C>G (p.Thr697=)	rs749762302	0.00016
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His)	rs200410163	0.00015
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)	rs377461918	0.00013
NM_016219.5(MAN1B1):c.1674G>A (p.Gln558=)	rs374793603	0.00012
NM_016219.5(MAN1B1):c.768C>T (p.Val256=)	rs145906530	0.00012
NM_016219.5(MAN1B1):c.1011G>C (p.Gly337=)	rs142836717	0.00009
NM_016219.5(MAN1B1):c.621-5C>T	rs200585294	0.00009
NM_016219.5(MAN1B1):c.731-4C>T	rs368940533	0.00009
NM_016219.5(MAN1B1):c.1065+11T>C	rs200147487	0.00007
NM_016219.5(MAN1B1):c.711C>T (p.Ala237=)	rs781675627	0.00007
NM_016219.5(MAN1B1):c.1236A>G (p.Thr412=)	rs754708614	0.00006
NM_016219.5(MAN1B1):c.1299G>C (p.Gly433=)	rs201942029	0.00006
NM_016219.5(MAN1B1):c.1445+10G>A	rs200441545	0.00006
NM_016219.5(MAN1B1):c.1765-9C>T	rs977693376	0.00006
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)	rs372125925	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.731-6del	rs762904705	0.00004
NM_016219.5(MAN1B1):c.1461C>T (p.Tyr487=)	rs373672617	0.00003
NM_016219.5(MAN1B1):c.1827C>T (p.Arg609=)	rs201933207	0.00003
NM_016219.5(MAN1B1):c.708G>A (p.Pro236=)	rs536127999	0.00003
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=)	rs777042053	0.00003
NM_016219.5(MAN1B1):c.1255-13C>T	rs765403325	0.00002
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)	rs564784943	0.00002
NM_016219.5(MAN1B1):c.699C>T (p.Pro233=)	rs764332216	0.00002
NM_016219.5(MAN1B1):c.756C>T (p.Gly252=)	rs752442068	0.00002
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=)	rs202157161	0.00002
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.1897-10T>C	rs1831193942	0.00001
NM_016219.5(MAN1B1):c.1929T>C (p.Asn643=)	rs771302082	0.00001
NM_016219.5(MAN1B1):c.1992G>A (p.Thr664=)	rs747239978	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.2019C>T (p.Ser673=)	rs770374939	0.00001
NM_016219.5(MAN1B1):c.621-4G>A	rs747603982	0.00001
NM_016219.5(MAN1B1):c.705A>G (p.Pro235=)	rs1342800552	0.00001
NM_016219.5(MAN1B1):c.731-9C>G	rs762958294	0.00001
NM_016219.5(MAN1B1):c.858C>T (p.Gly286=)	rs1830758562	0.00001
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)	rs750236367	0.00001
NM_016219.5(MAN1B1):c.1011G>A (p.Gly337=)
NM_016219.5(MAN1B1):c.1020G>T (p.Leu340=)
NM_016219.5(MAN1B1):c.1029C>T (p.Tyr343=)
NM_016219.5(MAN1B1):c.1050C>G (p.Leu350=)
NM_016219.5(MAN1B1):c.1066-10C>T
NM_016219.5(MAN1B1):c.1066-15C>G
NM_016219.5(MAN1B1):c.1066-18A>G
NM_016219.5(MAN1B1):c.1066-18A>T
NM_016219.5(MAN1B1):c.1084C>T (p.Leu362=)
NM_016219.5(MAN1B1):c.1125G>A (p.Ser375=)
NM_016219.5(MAN1B1):c.1137C>T (p.Ile379=)
NM_016219.5(MAN1B1):c.1170C>A (p.Thr390=)
NM_016219.5(MAN1B1):c.1194G>A (p.Val398=)	rs2131023045
NM_016219.5(MAN1B1):c.1254+13G>C
NM_016219.5(MAN1B1):c.1254+14C>T
NM_016219.5(MAN1B1):c.1254+15T>C
NM_016219.5(MAN1B1):c.1254+9G>A
NM_016219.5(MAN1B1):c.1255-13C>G
NM_016219.5(MAN1B1):c.1255-4G>A	rs201918928
NM_016219.5(MAN1B1):c.1255-9C>T
NM_016219.5(MAN1B1):c.1260A>C (p.Ala420=)
NM_016219.5(MAN1B1):c.1284C>T (p.Ile428=)	rs779030233
NM_016219.5(MAN1B1):c.1314G>C (p.Leu438=)
NM_016219.5(MAN1B1):c.1344C>T (p.Gly448=)
NM_016219.5(MAN1B1):c.1347C>T (p.Leu449=)
NM_016219.5(MAN1B1):c.1353C>T (p.Thr451=)
NM_016219.5(MAN1B1):c.1371G>A (p.Thr457=)
NM_016219.5(MAN1B1):c.1377C>T (p.Gly459=)
NM_016219.5(MAN1B1):c.1443A>G (p.Thr481=)
NM_016219.5(MAN1B1):c.1445+15G>A
NM_016219.5(MAN1B1):c.1445+31_1445+79dup	rs757502368
NM_016219.5(MAN1B1):c.1445+9C>T
NM_016219.5(MAN1B1):c.1446-10G>C
NM_016219.5(MAN1B1):c.1446-19T>C
NM_016219.5(MAN1B1):c.1446-4A>G
NM_016219.5(MAN1B1):c.1446-8G>C
NM_016219.5(MAN1B1):c.1462G>A (p.Val488Met)
NM_016219.5(MAN1B1):c.1488G>A (p.Thr496=)
NM_016219.5(MAN1B1):c.1488G>C (p.Thr496=)
NM_016219.5(MAN1B1):c.1542C>T (p.Ala514=)
NM_016219.5(MAN1B1):c.1566+11C>G
NM_016219.5(MAN1B1):c.1566+12T>C
NM_016219.5(MAN1B1):c.1566+14C>A
NM_016219.5(MAN1B1):c.1566+15G>A
NM_016219.5(MAN1B1):c.1566+17G>T
NM_016219.5(MAN1B1):c.1566+20C>T
NM_016219.5(MAN1B1):c.1567-13C>T
NM_016219.5(MAN1B1):c.1567-14C>T
NM_016219.5(MAN1B1):c.1567-16G>A
NM_016219.5(MAN1B1):c.1596G>A (p.Thr532=)
NM_016219.5(MAN1B1):c.1603C>T (p.Leu535=)
NM_016219.5(MAN1B1):c.1608C>T (p.Gly536=)
NM_016219.5(MAN1B1):c.1617C>T (p.His539=)
NM_016219.5(MAN1B1):c.1623G>C (p.Leu541=)
NM_016219.5(MAN1B1):c.1707C>T (p.Pro569=)
NM_016219.5(MAN1B1):c.1740G>A (p.Pro580=)
NM_016219.5(MAN1B1):c.1764+14T>C
NM_016219.5(MAN1B1):c.1764+15G>A	rs2131131764
NM_016219.5(MAN1B1):c.1764+17G>A
NM_016219.5(MAN1B1):c.1764+2TGGGCC[3]
NM_016219.5(MAN1B1):c.1896+16C>T
NM_016219.5(MAN1B1):c.1896+17G>C
NM_016219.5(MAN1B1):c.1896+8C>T
NM_016219.5(MAN1B1):c.1896+9C>T
NM_016219.5(MAN1B1):c.1897-5C>A
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=)	rs34355967
NM_016219.5(MAN1B1):c.1953G>A (p.Glu651=)	rs1244821111
NM_016219.5(MAN1B1):c.1992G>T (p.Thr664=)
NM_016219.5(MAN1B1):c.2041C>T (p.Leu681=)
NM_016219.5(MAN1B1):c.220-10C>T
NM_016219.5(MAN1B1):c.220-7C>G
NM_016219.5(MAN1B1):c.220-9C>T
NM_016219.5(MAN1B1):c.264C>T (p.Phe88=)
NM_016219.5(MAN1B1):c.285C>T (p.Phe95=)
NM_016219.5(MAN1B1):c.303C>T (p.Tyr101=)
NM_016219.5(MAN1B1):c.329-14C>T
NM_016219.5(MAN1B1):c.336T>A (p.Ala112=)
NM_016219.5(MAN1B1):c.375T>C (p.Ile125=)
NM_016219.5(MAN1B1):c.402C>G (p.Pro134=)
NM_016219.5(MAN1B1):c.402C>T (p.Pro134=)
NM_016219.5(MAN1B1):c.426G>C (p.Ala142=)	rs199738190
NM_016219.5(MAN1B1):c.466-13A>G
NM_016219.5(MAN1B1):c.525A>G (p.Gln175=)
NM_016219.5(MAN1B1):c.540G>A (p.Gly180=)
NM_016219.5(MAN1B1):c.564G>A (p.Arg188=)	rs1554752187
NM_016219.5(MAN1B1):c.620+10G>T
NM_016219.5(MAN1B1):c.620+12A>G
NM_016219.5(MAN1B1):c.620+20C>G
NM_016219.5(MAN1B1):c.621-14C>T
NM_016219.5(MAN1B1):c.621-4G>T
NM_016219.5(MAN1B1):c.645T>C (p.Pro215=)
NM_016219.5(MAN1B1):c.693G>A (p.Lys231=)
NM_016219.5(MAN1B1):c.708G>C (p.Pro236=)	rs536127999
NM_016219.5(MAN1B1):c.730+13C>G
NM_016219.5(MAN1B1):c.730+15G>A
NM_016219.5(MAN1B1):c.730+16C>T
NM_016219.5(MAN1B1):c.730+8C>T
NM_016219.5(MAN1B1):c.731-16C>T
NM_016219.5(MAN1B1):c.731-17T>C	rs1164752378
NM_016219.5(MAN1B1):c.731-18CT[2]
NM_016219.5(MAN1B1):c.731-8C>A	rs375902720
NM_016219.5(MAN1B1):c.731-8C>T	rs375902720
NM_016219.5(MAN1B1):c.765C>T (p.Asp255=)
NM_016219.5(MAN1B1):c.816C>T (p.Asp272=)
NM_016219.5(MAN1B1):c.879C>T (p.Asp293=)
NM_016219.5(MAN1B1):c.906T>C (p.Gly302=)
NM_016219.5(MAN1B1):c.916+10G>A
NM_016219.5(MAN1B1):c.916+14T>C
NM_016219.5(MAN1B1):c.966G>A (p.Lys322=)
NM_016219.5(MAN1B1):c.969C>T (p.Asp323=)
NM_016219.5(MAN1B1):c.996G>A (p.Thr332=)

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