ClinVar Miner

List of variants in gene MMAB studied for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 247
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HGVS dbSNP
NC_000012.12:g.(?_109561020)_(109565196_?)del
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.105C>T (p.Arg35=)
NM_052845.4(MMAB):c.107del (p.Gly36fs) rs1555276160
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)
NM_052845.4(MMAB):c.135-1G>A
NM_052845.4(MMAB):c.135-4T>C
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu)
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys)
NM_052845.4(MMAB):c.168C>G (p.Pro56=)
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
NM_052845.4(MMAB):c.197-1G>T rs763935916
NM_052845.4(MMAB):c.197-2del rs1555275604
NM_052845.4(MMAB):c.19GGGAGCCGTCTTGGCCTG[1] (p.7GSRLGL[1]) rs770077320
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter)
NM_052845.4(MMAB):c.222A>G (p.Glu74=) rs1389815526
NM_052845.4(MMAB):c.23del (p.Ser8fs)
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser)
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
NM_052845.4(MMAB):c.256G>A (p.Val86Met)
NM_052845.4(MMAB):c.258G>A (p.Val86=)
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) rs864309509
NM_052845.4(MMAB):c.290+1G>A
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) rs864309511
NM_052845.4(MMAB):c.291-1G>A rs199971687
NM_052845.4(MMAB):c.291-1G>T
NM_052845.4(MMAB):c.291-3dup
NM_052845.4(MMAB):c.297T>C (p.Ala99=)
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
NM_052845.4(MMAB):c.30T>C (p.Leu10=)
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp)
NM_052845.4(MMAB):c.348+10_348+13del
NM_052845.4(MMAB):c.348+2_348+3del
NM_052845.4(MMAB):c.348+7A>G
NM_052845.4(MMAB):c.348+9C>T
NM_052845.4(MMAB):c.349-10C>T rs896742047
NM_052845.4(MMAB):c.349-17T>C rs72650187
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.349-4C>G
NM_052845.4(MMAB):c.349-8C>G
NM_052845.4(MMAB):c.349-8C>T
NM_052845.4(MMAB):c.349-8dup rs759049347
NM_052845.4(MMAB):c.349-9G>A
NM_052845.4(MMAB):c.360A>G (p.Thr120=)
NM_052845.4(MMAB):c.367del (p.Asp123fs)
NM_052845.4(MMAB):c.369C>T (p.Asp123=)
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
NM_052845.4(MMAB):c.372C>T (p.Val124=)
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu) rs771053425
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp)
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del) rs1555274650
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.402G>A (p.Ser134=) rs756766385
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.408G>A (p.Arg136=)
NM_052845.4(MMAB):c.418T>C (p.Leu140=) rs768054177
NM_052845.4(MMAB):c.41G>A (p.Ser14Asn)
NM_052845.4(MMAB):c.422-1G>C
NM_052845.4(MMAB):c.422-5_422-3del
NM_052845.4(MMAB):c.422-6C>T rs759110803
NM_052845.4(MMAB):c.424T>C (p.Tyr142His) rs886198506
NM_052845.4(MMAB):c.432G>C (p.Thr144=) rs200127370
NM_052845.4(MMAB):c.441G>C (p.Ala147=)
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.457C>T (p.Leu153=)
NM_052845.4(MMAB):c.462G>T (p.Glu154Asp)
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter)
NM_052845.4(MMAB):c.471C>T (p.Ile157=) rs369581051
NM_052845.4(MMAB):c.487C>T (p.Gln163Ter)
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089
NM_052845.4(MMAB):c.519+10G>A rs771725706
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.525A>G (p.Gly175=)
NM_052845.4(MMAB):c.52C>T (p.Leu18=)
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
NM_052845.4(MMAB):c.540G>A (p.Ser180=) rs754311573
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.542C>T (p.Ala181Val) rs764164596
NM_052845.4(MMAB):c.543G>A (p.Ala181=)
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr)
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs)
NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Val188_Cys189insAlaArgAla)
NM_052845.4(MMAB):c.561C>G (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676
NM_052845.4(MMAB):c.563T>G (p.Val188Gly) rs869320654
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370
NM_052845.4(MMAB):c.573_577del (p.Ala192fs) rs1555274497
NM_052845.4(MMAB):c.573_577dup (p.Glu193fs) rs1555274497
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) rs749758687
NM_052845.4(MMAB):c.578_584dup (p.Val196fs) rs1555274493
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.581_582del (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.581_582dup (p.Arg195fs)
NM_052845.4(MMAB):c.582A>T (p.Arg194Ser) rs1057519147
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576
NM_052845.4(MMAB):c.583_584+18del rs1555274484
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482
NM_052845.4(MMAB):c.584+15G>A rs750655720
NM_052845.4(MMAB):c.584+6A>G
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708
NM_052845.4(MMAB):c.585-2A>C rs1555274254
NM_052845.4(MMAB):c.585-4C>G
NM_052845.4(MMAB):c.589G>T (p.Val197Leu)
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927
NM_052845.4(MMAB):c.60G>T (p.Gly20=)
NM_052845.4(MMAB):c.615C>T (p.Thr205=) rs760629956
NM_052845.4(MMAB):c.618T>C (p.Asp206=)
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284
NM_052845.4(MMAB):c.643_644insTT (p.Arg215fs)
NM_052845.4(MMAB):c.644+1G>A rs1592996077
NM_052845.4(MMAB):c.644+7G>A rs147637814
NM_052845.4(MMAB):c.644+8C>T
NM_052845.4(MMAB):c.644+9G>A
NM_052845.4(MMAB):c.645-6C>T
NM_052845.4(MMAB):c.645-8C>G
NM_052845.4(MMAB):c.650G>T (p.Ser217Ile)
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs)
NM_052845.4(MMAB):c.660_661del (p.Phe221fs) rs1383825118
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
NM_052845.4(MMAB):c.666G>A (p.Thr222=) rs369296142
NM_052845.4(MMAB):c.666G>T (p.Thr222=)
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618
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.732G>C (p.Ser244=)
NM_052845.4(MMAB):c.735C>G (p.Ala245=)
NM_052845.4(MMAB):c.735C>T (p.Ala245=)
NM_052845.4(MMAB):c.84G>A (p.Leu28=)
NM_052845.4(MMAB):c.87T>A (p.Tyr29Ter)
NM_052845.4(MMAB):c.91C>T (p.Arg31Cys)
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574

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