ClinVar Miner

List of variants studied for Beta-D-mannosidosis by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 67
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HGVS dbSNP
NM_005908.4(MANBA):c.*124T>C rs3194585
NM_005908.4(MANBA):c.*161C>T rs1054029
NM_005908.4(MANBA):c.*172G>A rs146374185
NM_005908.4(MANBA):c.*184A>G rs886058967
NM_005908.4(MANBA):c.*314A>G rs886058966
NM_005908.4(MANBA):c.*317A>G rs78514870
NM_005908.4(MANBA):c.*328T>A
NM_005908.4(MANBA):c.*356G>A rs7672268
NM_005908.4(MANBA):c.*384C>T rs4019
NM_005908.4(MANBA):c.*401G>A rs4013
NM_005908.4(MANBA):c.*437A>T rs80064803
NM_005908.4(MANBA):c.*447G>A
NM_005908.4(MANBA):c.*503G>C
NM_005908.4(MANBA):c.*505G>A rs1054037
NM_005908.4(MANBA):c.*516T>C rs562838260
NM_005908.4(MANBA):c.*521G>A
NM_005908.4(MANBA):c.*8T>G rs199881261
NM_005908.4(MANBA):c.-58G>A rs548442432
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)
NM_005908.4(MANBA):c.1112+8A>C rs752741187
NM_005908.4(MANBA):c.111G>T (p.Ser37=)
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403
NM_005908.4(MANBA):c.1317+14C>A
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile) rs561172083
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala) rs778853902
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu) rs147023714
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.1746A>T (p.Ser582=)
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu)
NM_005908.4(MANBA):c.178-8A>G rs113584126
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
NM_005908.4(MANBA):c.1953G>A (p.Thr651=) rs886058968
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352
NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys) rs763613927
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415
NM_005908.4(MANBA):c.2269T>C (p.Leu757=)
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe) rs201779762
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501
NM_005908.4(MANBA):c.2358C>T (p.Asn786=)
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697
NM_005908.4(MANBA):c.2389G>A (p.Val797Met) rs747236675
NM_005908.4(MANBA):c.2415+1G>C rs1284324018
NM_005908.4(MANBA):c.2416-3C>T
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) rs367692761
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr) rs182869272
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn) rs376012848
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760
NM_005908.4(MANBA):c.378+1G>A rs142029636
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953
NM_005908.4(MANBA):c.492C>T (p.Pro164=)
NM_005908.4(MANBA):c.531T>C (p.His177=) rs149902075
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys)
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp)
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368
NM_005908.4(MANBA):c.77G>A (p.Arg26His)
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168
NM_005908.4(MANBA):c.849+13A>C
NM_005908.4(MANBA):c.961-8C>A rs886058969

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