ClinVar Miner

List of variants in gene MAN2B1 reported as pathogenic for Deficiency of alpha-mannosidase

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Total variants: 70
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HGVS dbSNP
NC_000019.10:g.(?_12656561)_(12661386_?)del
NC_000019.9:g.(?_12760717)_(12761046_?)del
NC_000019.9:g.(?_12762957)_(12772200_?)del
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
NM_000528.4(MAN2B1):c.105_106del (p.Cys36fs)
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333
NM_000528.4(MAN2B1):c.1068dup (p.Ala357fs)
NM_000528.4(MAN2B1):c.1081del (p.Trp361fs)
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter) rs781291011
NM_000528.4(MAN2B1):c.1223del (p.Phe408fs)
NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)
NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357
NM_000528.4(MAN2B1):c.1351_1366dup (p.His456fs)
NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)
NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs) rs1599350640
NM_000528.4(MAN2B1):c.1534del (p.Val512fs)
NM_000528.4(MAN2B1):c.1644+4A>G
NM_000528.4(MAN2B1):c.1645-1G>A rs938576591
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677
NM_000528.4(MAN2B1):c.1831-2A>G rs80338678
NM_000528.4(MAN2B1):c.1915C>T (p.Gln639Ter) rs121434332
NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter) rs1599344532
NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter) rs398123455
NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)
NM_000528.4(MAN2B1):c.1963C>T (p.Gln655Ter)
NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer)
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2165+1G>A rs80338679
NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2272del (p.Asp758fs)
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331
NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter) rs779769525
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs) rs797044680
NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.4(MAN2B1):c.2437-2A>G rs1445197546
NM_000528.4(MAN2B1):c.247C>T (p.Gln83Ter)
NM_000528.4(MAN2B1):c.2534_2558del (p.Leu845fs)
NM_000528.4(MAN2B1):c.2559_2575del (p.Ala854fs)
NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter) rs1406466561
NM_000528.4(MAN2B1):c.2670_2671del (p.Gly891fs) rs1599338484
NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter) rs767323371
NM_000528.4(MAN2B1):c.2748_2751del (p.Leu917fs)
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000528.4(MAN2B1):c.2864_2879del (p.Thr955fs) rs1599337939
NM_000528.4(MAN2B1):c.2887G>T (p.Glu963Ter)
NM_000528.4(MAN2B1):c.293dup (p.Tyr99fs)
NM_000528.4(MAN2B1):c.308C>T (p.Ser103Leu)
NM_000528.4(MAN2B1):c.323_324delinsAA (p.Leu108Ter)
NM_000528.4(MAN2B1):c.388C>T (p.Gln130Ter)
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter) rs370803545
NM_000528.4(MAN2B1):c.422del (p.Asp141fs) rs778399351
NM_000528.4(MAN2B1):c.426del (p.Val143fs)
NM_000528.4(MAN2B1):c.437-1dup
NM_000528.4(MAN2B1):c.466del (p.Trp155_Val156insTer)
NM_000528.4(MAN2B1):c.484_487dup (p.Thr163fs)
NM_000528.4(MAN2B1):c.53_69dup (p.Met24fs)
NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter) rs1429239930
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568
NM_000528.4(MAN2B1):c.783C>A (p.Tyr261Ter)
NM_000528.4(MAN2B1):c.896dup (p.Ala300fs)

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