ClinVar Miner

List of variants reported as uncertain significance for alpha-mannosidosis by ClinVar Staff, National Center for Biotechnology Information (NCBI)

Included ClinVar conditions (1):
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Total variants: 41
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HGVS dbSNP
NM_000528.3(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.3(MAN2B1):c.1063A>C (p.Thr355Pro) rs864621992
NM_000528.3(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333
NM_000528.3(MAN2B1):c.1136C>T (p.Pro379Leu) rs864621981
NM_000528.3(MAN2B1):c.1168G>T (p.Gly390Cys) rs864621982
NM_000528.3(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999
NM_000528.3(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856
NM_000528.3(MAN2B1):c.1333C>T (p.His445Tyr) rs864621983
NM_000528.3(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357
NM_000528.3(MAN2B1):c.1358C>A (p.Ser453Tyr) rs864621984
NM_000528.3(MAN2B1):c.1358C>T (p.Ser453Phe) rs864621984
NM_000528.3(MAN2B1):c.1370T>A (p.Val457Glu) rs864621985
NM_000528.3(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968
NM_000528.3(MAN2B1):c.164G>T (p.Cys55Phe) rs864621975
NM_000528.3(MAN2B1):c.1694T>C (p.Leu565Pro) rs864621986
NM_000528.3(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993
NM_000528.3(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.3(MAN2B1):c.222C>A (p.Asp74Glu) rs746702002
NM_000528.3(MAN2B1):c.2234C>G (p.Thr745Arg) rs864621987
NM_000528.3(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.3(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.3(MAN2B1):c.2398G>T (p.Gly800Trp) rs398123456
NM_000528.3(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.3(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.3(MAN2B1):c.2671G>A (p.Gly891Arg) rs864621988
NM_000528.3(MAN2B1):c.2675T>C (p.Leu892Pro) rs864621989
NM_000528.3(MAN2B1):c.2746C>T (p.Arg916Cys) rs864621990
NM_000528.3(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.3(MAN2B1):c.283G>C (p.Ala95Pro) rs754036398
NM_000528.3(MAN2B1):c.2849G>C (p.Arg950Pro) rs139041112
NM_000528.3(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248
NM_000528.3(MAN2B1):c.295T>C (p.Tyr99His) rs794727484
NM_000528.3(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991
NM_000528.3(MAN2B1):c.475G>A (p.Asp159Asn) rs864621976
NM_000528.3(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.3(MAN2B1):c.598C>A (p.His200Asn) rs772108001
NM_000528.3(MAN2B1):c.599A>T (p.His200Leu) rs864621978
NM_000528.3(MAN2B1):c.605G>C (p.Arg202Pro) rs864621979
NM_000528.3(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568
NM_000528.3(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000528.3(MAN2B1):c.953C>T (p.Ser318Leu) rs774034389

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