ClinVar Miner

List of variants studied for Vitamin B12-responsive methylmalonic acidemia type cblB by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 109
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HGVS dbSNP
NM_052845.4(MMAB):c.*1005A>G rs67432283
NM_052845.4(MMAB):c.*1067C>T rs143292900
NM_052845.4(MMAB):c.*1088A>T rs142486697
NM_052845.4(MMAB):c.*1121C>T rs562046988
NM_052845.4(MMAB):c.*1230G>T rs11067231
NM_052845.4(MMAB):c.*1400G>A
NM_052845.4(MMAB):c.*1409G>A rs72650177
NM_052845.4(MMAB):c.*1428C>T rs757325398
NM_052845.4(MMAB):c.*1467C>T rs1061440
NM_052845.4(MMAB):c.*1482C>T
NM_052845.4(MMAB):c.*1535G>A rs34921355
NM_052845.4(MMAB):c.*1657G>A rs111869218
NM_052845.4(MMAB):c.*1683G>A rs572832766
NM_052845.4(MMAB):c.*1685G>A rs117011771
NM_052845.4(MMAB):c.*1689C>T
NM_052845.4(MMAB):c.*1729A>C rs559163901
NM_052845.4(MMAB):c.*1747A>G rs886048917
NM_052845.4(MMAB):c.*1810G>A rs73414076
NM_052845.4(MMAB):c.*192T>C rs8228
NM_052845.4(MMAB):c.*1952T>C rs61940463
NM_052845.4(MMAB):c.*1988C>T
NM_052845.4(MMAB):c.*2023C>T rs546885397
NM_052845.4(MMAB):c.*2051C>T
NM_052845.4(MMAB):c.*2053C>T
NM_052845.4(MMAB):c.*2150A>G
NM_052845.4(MMAB):c.*2186T>C rs147647465
NM_052845.4(MMAB):c.*2326C>G
NM_052845.4(MMAB):c.*2342G>A rs72650176
NM_052845.4(MMAB):c.*2392C>T
NM_052845.4(MMAB):c.*2503G>A rs886048916
NM_052845.4(MMAB):c.*2619A>T rs778528128
NM_052845.4(MMAB):c.*2628C>T rs73414074
NM_052845.4(MMAB):c.*2636A>G rs748949434
NM_052845.4(MMAB):c.*2679G>C rs546327751
NM_052845.4(MMAB):c.*2684G>C rs35145546
NM_052845.4(MMAB):c.*2701G>C rs2241201
NM_052845.4(MMAB):c.*2736G>C
NM_052845.4(MMAB):c.*2739C>T
NM_052845.4(MMAB):c.*2740G>A rs139886832
NM_052845.4(MMAB):c.*2783G>A
NM_052845.4(MMAB):c.*2835T>C rs12817689
NM_052845.4(MMAB):c.*2890C>T
NM_052845.4(MMAB):c.*2913C>T
NM_052845.4(MMAB):c.*2914G>A rs759971406
NM_052845.4(MMAB):c.*3019A>G rs78065254
NM_052845.4(MMAB):c.*301C>T
NM_052845.4(MMAB):c.*3027T>C
NM_052845.4(MMAB):c.*3043T>G
NM_052845.4(MMAB):c.*3074C>T
NM_052845.4(MMAB):c.*3142G>A
NM_052845.4(MMAB):c.*3148G>A rs11067227
NM_052845.4(MMAB):c.*3152A>T rs886048915
NM_052845.4(MMAB):c.*3178C>A rs73414071
NM_052845.4(MMAB):c.*3260G>A
NM_052845.4(MMAB):c.*3265A>G rs776804847
NM_052845.4(MMAB):c.*3295C>T
NM_052845.4(MMAB):c.*3296G>A
NM_052845.4(MMAB):c.*335G>A
NM_052845.4(MMAB):c.*348T>G
NM_052845.4(MMAB):c.*374T>A
NM_052845.4(MMAB):c.*376T>A rs527861371
NM_052845.4(MMAB):c.*378T>A rs66497319
NM_052845.4(MMAB):c.*380A>T rs74967596
NM_052845.4(MMAB):c.*404T>G rs148289390
NM_052845.4(MMAB):c.*422T>C
NM_052845.4(MMAB):c.*424G>A
NM_052845.4(MMAB):c.*503G>A
NM_052845.4(MMAB):c.*509C>T rs886048923
NM_052845.4(MMAB):c.*554G>A rs562420933
NM_052845.4(MMAB):c.*564G>C rs56760240
NM_052845.4(MMAB):c.*588C>T
NM_052845.4(MMAB):c.*625G>C rs11067233
NM_052845.4(MMAB):c.*656C>A rs11067232
NM_052845.4(MMAB):c.*691A>C rs886048922
NM_052845.4(MMAB):c.*710C>T
NM_052845.4(MMAB):c.*716C>T rs886048921
NM_052845.4(MMAB):c.*721T>G rs11831226
NM_052845.4(MMAB):c.*815T>C rs776724872
NM_052845.4(MMAB):c.*857G>C rs877710
NM_052845.4(MMAB):c.*891C>A rs877709
NM_052845.4(MMAB):c.*961G>A rs541447661
NM_052845.4(MMAB):c.-11C>G
NM_052845.4(MMAB):c.-4G>C rs372195202
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu)
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.542C>T (p.Ala181Val) rs764164596
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.584+15G>A rs750655720
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927
NM_052845.4(MMAB):c.644+7G>A rs147637814
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.7G>A (p.Val3Met)

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