ClinVar Miner

List of variants in gene MAN2B1 reported as uncertain significance for alpha-mannosidosis

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP
NM_000528.3(MAN2B1):c.1308_1309+2delCAGT rs1555708282
NM_000528.3(MAN2B1):c.2267+8dupG rs572289342
NM_000528.3:c.2484_2485ins6 rs1555706406
NM_000528.4(MAN2B1):c.*100T>G rs886054227
NM_000528.4(MAN2B1):c.*105C>G rs547349667
NM_000528.4(MAN2B1):c.*42G>A rs149101136
NM_000528.4(MAN2B1):c.-19A>G rs886054234
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro) rs864621992
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1114G>T (p.Val372Leu)
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=) rs886054231
NM_000528.4(MAN2B1):c.1136C>T (p.Pro379Leu) rs864621981
NM_000528.4(MAN2B1):c.1168G>T (p.Gly390Cys) rs864621982
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=) rs745391577
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999
NM_000528.4(MAN2B1):c.1230+5G>T
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075
NM_000528.4(MAN2B1):c.1333C>T (p.His445Tyr) rs864621983
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357
NM_000528.4(MAN2B1):c.1358C>A (p.Ser453Tyr) rs864621984
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe) rs864621984
NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu) rs864621985
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser) rs767199154
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=) rs771761940
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe) rs864621975
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928
NM_000528.4(MAN2B1):c.1694T>C (p.Leu565Pro) rs864621986
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=) rs369071579
NM_000528.4(MAN2B1):c.1922_1924TCT[1] (p.Phe642del) rs779241409
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del)
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu) rs967834240
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs) rs1290585382
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566
NM_000528.4(MAN2B1):c.2101G>A (p.Val701Ile)
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2166-10_2166-2del rs1555706734
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu) rs746702002
NM_000528.4(MAN2B1):c.2234C>G (p.Thr745Arg) rs864621987
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
NM_000528.4(MAN2B1):c.224T>A (p.Val75Glu)
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2355+6T>A
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2398G>T (p.Gly800Trp) rs398123456
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val) rs886054229
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=) rs372896479
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=) rs368834616
NM_000528.4(MAN2B1):c.2671G>A (p.Gly891Arg) rs864621988
NM_000528.4(MAN2B1):c.2675T>C (p.Leu892Pro) rs864621989
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn) rs200033151
NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys) rs864621990
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile)
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys) rs142248782
NM_000528.4(MAN2B1):c.283G>C (p.Ala95Pro) rs754036398
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro) rs139041112
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His) rs750173812
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=) rs142797984
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp) rs148080695
NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His) rs794727484
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=) rs886054228
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys) rs1555710357
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn) rs864621976
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=) rs200872797
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu) rs864621978
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro) rs864621979
NM_000528.4(MAN2B1):c.630+12G>C rs368271384
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
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.718C>T (p.Arg240Trp)
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.4(MAN2B1):c.784_786del (p.Asn262del) rs1555709511
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=) rs886054232
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587
NM_000528.4(MAN2B1):c.953C>T (p.Ser318Leu) rs774034389
NM_001173498.1(MAN2B1):c.-73G>T rs544325509

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