ClinVar Miner

List of variants in gene MMAB studied for classic organic aciduria

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 425
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_052845.4(MMAB):c.*1230G>T rs11067231 0.57792
NM_052845.4(MMAB):c.*857G>C rs877710 0.57567
NM_052845.4(MMAB):c.584+254A>G rs2058805 0.57020
NM_052845.4(MMAB):c.348+105T>C rs10850380 0.57015
NM_052845.4(MMAB):c.290+63T>C rs11836136 0.32654
NM_052845.4(MMAB):c.*2701G>C rs2241201 0.32502
NM_052845.4(MMAB):c.*3148G>A rs11067227 0.24124
NM_052845.4(MMAB):c.*625G>C rs11067233 0.24108
NM_052845.4(MMAB):c.*891C>A rs877709 0.24103
NM_052845.4(MMAB):c.*1535G>A rs34921355 0.17160
NM_052845.4(MMAB):c.*2835T>C rs12817689 0.16911
NM_052845.4(MMAB):c.*2684G>C rs35145546 0.16749
NM_052845.4(MMAB):c.*192T>C rs8228 0.10802
NM_052845.4(MMAB):c.*1810G>A rs73414076 0.10702
NM_052845.4(MMAB):c.*1467C>T rs1061440 0.10309
NM_052845.4(MMAB):c.*1952T>C rs61940463 0.10285
NM_052845.4(MMAB):c.*721T>G rs11831226 0.08628
NM_052845.4(MMAB):c.*378T>A rs66497319 0.08528
NM_052845.4(MMAB):c.584+24A>G rs78599682 0.07842
NM_052845.4(MMAB):c.*656C>A rs11067232 0.06738
NM_052845.4(MMAB):c.*1729A>C rs559163901 0.06159
NM_052845.4(MMAB):c.*376T>A rs527861371 0.05729
NM_052845.4(MMAB):c.*1005A>G rs67432283 0.05428
NM_052845.4(MMAB):c.*1409G>A rs72650177 0.05424
NM_052845.4(MMAB):c.135-23T>C rs66580225 0.05340
NM_052845.4(MMAB):c.*1657G>A rs111869218 0.05010
NM_052845.4(MMAB):c.*2628C>T rs73414074 0.02477
NM_052845.4(MMAB):c.*374T>A rs549601416 0.02435
NM_052845.4(MMAB):c.*3178C>A rs73414071 0.02319
NM_052845.4(MMAB):c.*564G>C rs56760240 0.02298
NM_052845.4(MMAB):c.*380A>T rs74967596 0.01512
NM_052845.4(MMAB):c.349-17T>C rs72650187 0.00583
NM_052845.4(MMAB):c.*3019A>G rs78065254 0.00540
NM_052845.4(MMAB):c.*3295C>T rs144430513 0.00304
NM_052845.4(MMAB):c.*1088A>T rs142486697 0.00303
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
NM_052845.4(MMAB):c.*2186T>C rs147647465 0.00246
NM_052845.4(MMAB):c.*1685G>A rs117011771 0.00244
NM_052845.4(MMAB):c.*404T>G rs148289390 0.00240
NM_052845.4(MMAB):c.*1067C>T rs143292900 0.00218
NM_052845.4(MMAB):c.*2342G>A rs72650176 0.00162
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452 0.00139
NM_052845.4(MMAB):c.*1988C>T rs183354300 0.00111
NM_052845.4(MMAB):c.*2023C>T rs546885397 0.00083
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956 0.00081
NM_052845.4(MMAB):c.*3265A>G rs776804847 0.00050
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388 0.00048
NM_052845.4(MMAB):c.*961G>A rs541447661 0.00039
NM_052845.4(MMAB):c.*2740G>A rs139886832 0.00034
NM_052845.4(MMAB):c.*3043T>G rs771530065 0.00031
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn) rs147297426 0.00030
NM_052845.4(MMAB):c.*503G>A rs766339289 0.00029
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00028
NM_052845.4(MMAB):c.*2051C>T rs775263273 0.00026
NM_052845.4(MMAB):c.*2914G>A rs759971406 0.00025
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276 0.00021
NM_052845.4(MMAB):c.*3142G>A rs747166756 0.00020
NM_052845.4(MMAB):c.*1683G>A rs572832766 0.00018
NM_052845.4(MMAB):c.*2503G>A rs886048916 0.00017
NM_052845.4(MMAB):c.*2636A>G rs748949434 0.00017
NM_052845.4(MMAB):c.*2053C>T rs545623412 0.00016
NM_052845.4(MMAB):c.*554G>A rs562420933 0.00016
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp) rs28941784 0.00015
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627 0.00014
NM_052845.4(MMAB):c.503C>T (p.Thr168Met) rs200690789 0.00013
NM_052845.4(MMAB):c.*1482C>T rs576738108 0.00012
NM_052845.4(MMAB):c.584+6A>G rs767719463 0.00012
NM_052845.4(MMAB):c.*1689C>T rs886093880 0.00011
NM_052845.4(MMAB):c.*3074C>T rs186602321 0.00011
NM_052845.4(MMAB):c.666G>A (p.Thr222=) rs369296142 0.00011
NM_052845.4(MMAB):c.*509C>T rs886048923 0.00010
NM_052845.4(MMAB):c.703G>A (p.Glu235Lys) rs144880448 0.00010
NM_052845.4(MMAB):c.*301C>T rs1053960970 0.00009
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022 0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720 0.00009
NM_052845.4(MMAB):c.584+15G>A rs750655720 0.00008
NM_052845.4(MMAB):c.644+7G>A rs147637814 0.00008
NM_052845.4(MMAB):c.*691A>C rs886048922 0.00007
NM_052845.4(MMAB):c.256G>A (p.Val86Met) rs143935056 0.00007
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu) rs138708209 0.00007
NM_052845.4(MMAB):c.*335G>A rs745373257 0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn) rs925180956 0.00006
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00006
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu) rs762138026 0.00006
NM_052845.4(MMAB):c.*424G>A rs551461624 0.00005
NM_052845.4(MMAB):c.*710C>T rs538702791 0.00005
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu) rs764683053 0.00005
NM_052845.4(MMAB):c.346A>G (p.Lys116Glu) rs551289581 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met) rs142070439 0.00005
NM_052845.4(MMAB):c.*2679G>C rs546327751 0.00004
NM_052845.4(MMAB):c.*588C>T rs1214904926 0.00004
NM_052845.4(MMAB):c.*815T>C rs776724872 0.00004
NM_052845.4(MMAB):c.168C>G (p.Pro56=) rs752857938 0.00004
NM_052845.4(MMAB):c.326C>T (p.Thr109Ile) rs762404377 0.00004
NM_052845.4(MMAB):c.349-9G>A rs372577644 0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385 0.00004
NM_052845.4(MMAB):c.542C>T (p.Ala181Val) rs764164596 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr) rs149041607 0.00004
NM_052845.4(MMAB):c.*1428C>T rs757325398 0.00003
NM_052845.4(MMAB):c.*2736G>C rs747163137 0.00003
NM_052845.4(MMAB):c.*2739C>T rs759550993 0.00003
NM_052845.4(MMAB):c.291-18T>C rs145147836 0.00003
NM_052845.4(MMAB):c.291-1G>A rs199971687 0.00003
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146 0.00003
NM_052845.4(MMAB):c.348+17C>T rs202141416 0.00003
NM_052845.4(MMAB):c.370G>A (p.Val124Ile) rs573706523 0.00003
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser) rs1047443761 0.00003
NM_052845.4(MMAB):c.519+10G>A rs771725706 0.00003
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu) rs368584846 0.00003
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln) rs746219370 0.00003
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576 0.00003
NM_052845.4(MMAB):c.644+9G>A rs748589454 0.00003
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter) rs369296618 0.00003
NM_052845.4(MMAB):c.729A>G (p.Pro243=) rs750028609 0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802 0.00003
NM_052845.4(MMAB):c.*1747A>G rs886048917 0.00002
NM_052845.4(MMAB):c.*2619A>T rs778528128 0.00002
NM_052845.4(MMAB):c.*2783G>A rs1012338830 0.00002
NM_052845.4(MMAB):c.*2890C>T rs1005573398 0.00002
NM_052845.4(MMAB):c.*2913C>T rs901387869 0.00002
NM_052845.4(MMAB):c.220G>T (p.Glu74Ter) rs2136208377 0.00002
NM_052845.4(MMAB):c.298C>T (p.Leu100=) rs751553040 0.00002
NM_052845.4(MMAB):c.372C>T (p.Val124=) rs371092213 0.00002
NM_052845.4(MMAB):c.373G>A (p.Gly125Ser) rs193015172 0.00002
NM_052845.4(MMAB):c.519+19T>A rs904409660 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn) rs749182356 0.00002
NM_052845.4(MMAB):c.618T>C (p.Asp206=) rs1461731163 0.00002
NM_052845.4(MMAB):c.644+8C>T rs770159367 0.00002
NM_052845.4(MMAB):c.645-6C>T rs766039550 0.00002
NM_052845.4(MMAB):c.685A>G (p.Met229Val) rs371960953 0.00002
NM_052845.4(MMAB):c.*2150A>G rs781473185 0.00001
NM_052845.4(MMAB):c.*2326C>G rs1210681751 0.00001
NM_052845.4(MMAB):c.*716C>T rs886048921 0.00001
NM_052845.4(MMAB):c.135-4T>C rs1025409144 0.00001
NM_052845.4(MMAB):c.177C>T (p.Tyr59=) rs2136210789 0.00001
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala) rs759809454 0.00001
NM_052845.4(MMAB):c.186G>A (p.Thr62=) rs769514842 0.00001
NM_052845.4(MMAB):c.197-12T>C rs776530765 0.00001
NM_052845.4(MMAB):c.197-1G>T rs763935916 0.00001
NM_052845.4(MMAB):c.240C>T (p.Asp80=) rs745393254 0.00001
NM_052845.4(MMAB):c.247T>C (p.Phe83Leu) rs571555515 0.00001
NM_052845.4(MMAB):c.254C>T (p.Ala85Val) rs770743560 0.00001
NM_052845.4(MMAB):c.255C>T (p.Ala85=) rs894225131 0.00001
NM_052845.4(MMAB):c.290+12A>G rs1427905618 0.00001
NM_052845.4(MMAB):c.330T>C (p.Phe110=) rs772874278 0.00001
NM_052845.4(MMAB):c.348+10_348+13del rs775340018 0.00001
NM_052845.4(MMAB):c.348+7A>G rs769138883 0.00001
NM_052845.4(MMAB):c.348+9C>T rs747459155 0.00001
NM_052845.4(MMAB):c.349-10C>T rs896742047 0.00001
NM_052845.4(MMAB):c.349-20C>T rs1330754557 0.00001
NM_052845.4(MMAB):c.349-4C>G rs2136199982 0.00001
NM_052845.4(MMAB):c.360A>G (p.Thr120=) rs1393235772 0.00001
NM_052845.4(MMAB):c.369C>T (p.Asp123=) rs1055749855 0.00001
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu) rs771053425 0.00001
NM_052845.4(MMAB):c.380C>A (p.Ala127Asp) rs778169806 0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057 0.00001
NM_052845.4(MMAB):c.421+14T>A rs760915792 0.00001
NM_052845.4(MMAB):c.421+18G>C rs759898774 0.00001
NM_052845.4(MMAB):c.422-6C>T rs759110803 0.00001
NM_052845.4(MMAB):c.423G>A (p.Lys141=) rs1474862262 0.00001
NM_052845.4(MMAB):c.424T>C (p.Tyr142His) rs886198506 0.00001
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala) rs561864335 0.00001
NM_052845.4(MMAB):c.432G>C (p.Thr144=) rs200127370 0.00001
NM_052845.4(MMAB):c.451C>T (p.Leu151=) rs1884202824 0.00001
NM_052845.4(MMAB):c.456G>A (p.Glu152=) rs1884202411 0.00001
NM_052845.4(MMAB):c.457C>T (p.Leu153=) rs767045171 0.00001
NM_052845.4(MMAB):c.465G>A (p.Gln155=) rs1323701026 0.00001
NM_052845.4(MMAB):c.471C>T (p.Ile157=) rs369581051 0.00001
NM_052845.4(MMAB):c.492C>G (p.Leu164=) rs1417223404 0.00001
NM_052845.4(MMAB):c.507C>T (p.Ala169=) rs776916498 0.00001
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089 0.00001
NM_052845.4(MMAB):c.520-18G>A rs1255067414 0.00001
NM_052845.4(MMAB):c.520-19T>C rs1884182442 0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368 0.00001
NM_052845.4(MMAB):c.523G>T (p.Gly175Ter) rs758790126 0.00001
NM_052845.4(MMAB):c.525A>G (p.Gly175=) rs138069953 0.00001
NM_052845.4(MMAB):c.540G>A (p.Ser180=) rs754311573 0.00001
NM_052845.4(MMAB):c.543G>A (p.Ala181=) rs145411521 0.00001
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr) rs767774574 0.00001
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00001
NM_052845.4(MMAB):c.569G>A (p.Arg190His) rs756414548 0.00001
NM_052845.4(MMAB):c.576C>T (p.Ala192=) rs757562796 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 0.00001
NM_052845.4(MMAB):c.579G>A (p.Glu193=) rs2136198146 0.00001
NM_052845.4(MMAB):c.584+12G>A rs1434392120 0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708 0.00001
NM_052845.4(MMAB):c.585-16T>A rs1884100386 0.00001
NM_052845.4(MMAB):c.585-17G>A rs755056072 0.00001
NM_052845.4(MMAB):c.585-18T>C rs781192659 0.00001
NM_052845.4(MMAB):c.589G>T (p.Val197Leu) rs780166156 0.00001
NM_052845.4(MMAB):c.615C>T (p.Thr205=) rs760629956 0.00001
NM_052845.4(MMAB):c.621G>A (p.Ala207=) rs769869903 0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_052845.4(MMAB):c.644+17T>C rs1187542234 0.00001
NM_052845.4(MMAB):c.644+6C>T rs376868629 0.00001
NM_052845.4(MMAB):c.645-8C>G rs1251570137 0.00001
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn) rs762457418 0.00001
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu) rs940651669 0.00001
NM_052845.4(MMAB):c.660C>G (p.Leu220=) rs762187403 0.00001
NM_052845.4(MMAB):c.676T>C (p.Tyr226His) rs1447749873 0.00001
NC_000012.11:g.(?_109991510)_(109994951_?)del
NC_000012.11:g.(?_110002904)_(110003001_?)del
NC_000012.11:g.(?_110009434)_(110009535_?)dup
NC_000012.12:g.(?_109561020)_(109565196_?)del
NM_052845.4(MMAB):c.*1121C>T rs562046988
NM_052845.4(MMAB):c.*1400G>A rs1883946986
NM_052845.4(MMAB):c.*2392C>T rs1883900272
NM_052845.4(MMAB):c.*3027T>C rs1883879729
NM_052845.4(MMAB):c.*3152A>T rs886048915
NM_052845.4(MMAB):c.*3260G>A rs1883871954
NM_052845.4(MMAB):c.*3296G>A rs777939885
NM_052845.4(MMAB):c.*348T>G rs1883987573
NM_052845.4(MMAB):c.*422T>C rs1883979155
NM_052845.4(MMAB):c.135-12A>T rs779361459
NM_052845.4(MMAB):c.135-19G>A rs758112774
NM_052845.4(MMAB):c.135-1G>A rs1566137903
NM_052845.4(MMAB):c.135-8C>T rs2136210870
NM_052845.4(MMAB):c.139C>T (p.Gln47Ter) rs1884632948
NM_052845.4(MMAB):c.144T>G (p.Pro48=) rs2136210832
NM_052845.4(MMAB):c.147C>T (p.Ser49=) rs1386352792
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys) rs2136210801
NM_052845.4(MMAB):c.165C>T (p.Ile55=) rs2136210798
NM_052845.4(MMAB):c.186G>T (p.Thr62=) rs769514842
NM_052845.4(MMAB):c.189A>G (p.Gly63=) rs2136210776
NM_052845.4(MMAB):c.196+13C>G rs1158748371
NM_052845.4(MMAB):c.196+17T>G rs1158580404
NM_052845.4(MMAB):c.196+9G>A rs2548612316
NM_052845.4(MMAB):c.197-14A>G rs2548611041
NM_052845.4(MMAB):c.197-15C>A rs546939788
NM_052845.4(MMAB):c.197-1G>A rs763935916
NM_052845.4(MMAB):c.197-2A>G rs2084305079
NM_052845.4(MMAB):c.197-2del rs1555275604
NM_052845.4(MMAB):c.197-7T>C rs1884534638
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr) rs147297426
NM_052845.4(MMAB):c.219A>G (p.Gly73=) rs2548611000
NM_052845.4(MMAB):c.222A>G (p.Glu74=) rs1389815526
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp) rs1389815526
NM_052845.4(MMAB):c.225G>A (p.Arg75=) rs267603297
NM_052845.4(MMAB):c.243A>G (p.Gln81=) rs1473011297
NM_052845.4(MMAB):c.245del (p.Val82fs)
NM_052845.4(MMAB):c.248T>C (p.Phe83Ser) rs1185132313
NM_052845.4(MMAB):c.249T>G (p.Phe83Leu) rs2136208348
NM_052845.4(MMAB):c.250G>A (p.Glu84Lys)
NM_052845.4(MMAB):c.255C>G (p.Ala85=) rs894225131
NM_052845.4(MMAB):c.258G>A (p.Val86=) rs2136208331
NM_052845.4(MMAB):c.266del (p.Thr89fs) rs2548610961
NM_052845.4(MMAB):c.282A>G (p.Ser94=)
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr) rs864309509
NM_052845.4(MMAB):c.290+19G>T rs2548610911
NM_052845.4(MMAB):c.290+1G>A rs1351673148
NM_052845.4(MMAB):c.290+3A>G
NM_052845.4(MMAB):c.290+7G>C rs2548610926
NM_052845.4(MMAB):c.290+8G>T rs2548610925
NM_052845.4(MMAB):c.290G>A (p.Gly97Glu) rs864309511
NM_052845.4(MMAB):c.291-15C>G rs2548608081
NM_052845.4(MMAB):c.291-16del rs760631624
NM_052845.4(MMAB):c.291-1G>T rs199971687
NM_052845.4(MMAB):c.291-3dup rs2136203965
NM_052845.4(MMAB):c.291-5C>G rs1884375095
NM_052845.4(MMAB):c.291-7T>G
NM_052845.4(MMAB):c.294T>C (p.Phe98=) rs2548608060
NM_052845.4(MMAB):c.297T>C (p.Ala99=) rs2136203950
NM_052845.4(MMAB):c.312A>C (p.Thr104=)
NM_052845.4(MMAB):c.321C>A (p.Gly107=) rs2548608015
NM_052845.4(MMAB):c.327A>C (p.Thr109=)
NM_052845.4(MMAB):c.330del (p.Phe110fs) rs2136203888
NM_052845.4(MMAB):c.334G>T (p.Glu112Ter) rs376219481
NM_052845.4(MMAB):c.339G>C (p.Glu113Asp) rs2136203868
NM_052845.4(MMAB):c.342T>A (p.Leu114=) rs2136203863
NM_052845.4(MMAB):c.348+11C>T rs2548607939
NM_052845.4(MMAB):c.348+20C>G rs2548607927
NM_052845.4(MMAB):c.348+2_348+3del rs2136203848
NM_052845.4(MMAB):c.349-14C>G rs1452207959
NM_052845.4(MMAB):c.349-1G>C rs864309510
NM_052845.4(MMAB):c.349-5C>G rs1228758269
NM_052845.4(MMAB):c.349-5C>T rs1228758269
NM_052845.4(MMAB):c.349-6C>T rs761431471
NM_052845.4(MMAB):c.349-8C>A rs1468191738
NM_052845.4(MMAB):c.349-8C>G rs1468191738
NM_052845.4(MMAB):c.349-8C>T rs1468191738
NM_052845.4(MMAB):c.349-8dup rs759049347
NM_052845.4(MMAB):c.349-9G>C
NM_052845.4(MMAB):c.357C>A (p.Cys119Ter) rs2548605435
NM_052845.4(MMAB):c.360A>C (p.Thr120=) rs1393235772
NM_052845.4(MMAB):c.367G>A (p.Asp123Asn)
NM_052845.4(MMAB):c.367del (p.Asp123fs) rs1387128853
NM_052845.4(MMAB):c.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.379G>A (p.Ala127Thr)
NM_052845.4(MMAB):c.381C>T (p.Ala127=) rs1204546700
NM_052845.4(MMAB):c.386C>T (p.Ala129Val)
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del) rs1555274650
NM_052845.4(MMAB):c.405C>T (p.Ala135=) rs2548605292
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.406C>T (p.Arg136Trp)
NM_052845.4(MMAB):c.407G>A (p.Arg136Gln) rs796051994
NM_052845.4(MMAB):c.408G>A (p.Arg136=) rs760995089
NM_052845.4(MMAB):c.414T>C (p.Ala138=) rs2136199754
NM_052845.4(MMAB):c.414T>G (p.Ala138=) rs2136199754
NM_052845.4(MMAB):c.417C>T (p.His139=) rs2136199746
NM_052845.4(MMAB):c.418T>C (p.Leu140=) rs768054177
NM_052845.4(MMAB):c.421+1G>A rs2136199734
NM_052845.4(MMAB):c.421+7C>A rs1192166753
NM_052845.4(MMAB):c.422-19del rs2548604852
NM_052845.4(MMAB):c.422-1G>A rs2136199436
NM_052845.4(MMAB):c.422-1G>C rs2136199436
NM_052845.4(MMAB):c.422-5_422-3del rs2136199438
NM_052845.4(MMAB):c.422A>G (p.Lys141Arg)
NM_052845.4(MMAB):c.426T>C (p.Tyr142=) rs2548604820
NM_052845.4(MMAB):c.432G>A (p.Thr144=) rs200127370
NM_052845.4(MMAB):c.432G>T (p.Thr144=) rs200127370
NM_052845.4(MMAB):c.441G>A (p.Ala147=) rs1038979872
NM_052845.4(MMAB):c.441G>C (p.Ala147=) rs1038979872
NM_052845.4(MMAB):c.444G>T (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter) rs557884699
NM_052845.4(MMAB):c.460G>T (p.Glu154Ter) rs2136199292
NM_052845.4(MMAB):c.462G>T (p.Glu154Asp) rs1392513631
NM_052845.4(MMAB):c.463C>T (p.Gln155Ter) rs2548604750
NM_052845.4(MMAB):c.467G>A (p.Trp156Ter) rs2136199270
NM_052845.4(MMAB):c.468G>A (p.Trp156Ter) rs1884201610
NM_052845.4(MMAB):c.475A>C (p.Lys159Gln)
NM_052845.4(MMAB):c.483C>T (p.Thr161=) rs2548604690
NM_052845.4(MMAB):c.487C>T (p.Gln163Ter) rs2136199221
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe) rs1393437649
NM_052845.4(MMAB):c.502dup (p.Thr168fs) rs1884198492
NM_052845.4(MMAB):c.511A>G (p.Ile171Val)
NM_052845.4(MMAB):c.513C>A (p.Ile171=) rs2136199131
NM_052845.4(MMAB):c.513C>T (p.Ile171=) rs2136199131
NM_052845.4(MMAB):c.519+13C>T rs375418598
NM_052845.4(MMAB):c.519+16G>A rs2548604572
NM_052845.4(MMAB):c.519+17C>T rs1884195985
NM_052845.4(MMAB):c.519+1G>A rs1592998207
NM_052845.4(MMAB):c.519dup (p.Ser174fs)
NM_052845.4(MMAB):c.520-15C>T rs2548604178
NM_052845.4(MMAB):c.520-20A>G rs768064952
NM_052845.4(MMAB):c.520-4T>C rs1884182102
NM_052845.4(MMAB):c.539C>A (p.Ser180Ter) rs368584846
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.541_554dup (p.Cys185fs) rs2548604098
NM_052845.4(MMAB):c.542C>G (p.Ala181Gly)
NM_052845.4(MMAB):c.545_570del (p.Leu182fs) rs1566132205
NM_052845.4(MMAB):c.546_555dup (p.Arg186fs) rs2548604090
NM_052845.4(MMAB):c.555C>T (p.Cys185=) rs2548604086
NM_052845.4(MMAB):c.556C>A (p.Arg186=) rs28941784
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly) rs28941784
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.557G>C (p.Arg186Pro) rs773059864
NM_052845.4(MMAB):c.558_559delinsC (p.Ala187fs) rs2136198361
NM_052845.4(MMAB):c.560_561insGGCACGGGC (p.Ala187_Val188insAlaArgAla) rs2136198351
NM_052845.4(MMAB):c.561C>G (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.563T>G (p.Val188Gly) rs869320654
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del) rs1555274496
NM_052845.4(MMAB):c.563_577dup (p.Val188_Ala192dup) rs1555274496
NM_052845.4(MMAB):c.564G>A (p.Val188=) rs2548604057
NM_052845.4(MMAB):c.565_577del (p.Cys189fs) rs2548604009
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup) rs864309512
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu) rs756414548
NM_052845.4(MMAB):c.570C>T (p.Arg190=) rs1448685745
NM_052845.4(MMAB):c.571C>G (p.Arg191Gly) rs376128990
NM_052845.4(MMAB):c.572G>C (p.Arg191Pro) rs746219370
NM_052845.4(MMAB):c.573G>C (p.Arg191=) rs2136198226
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.574_577del (p.Ala192fs) rs747499304
NM_052845.4(MMAB):c.574dup (p.Ala192fs) rs1884177009
NM_052845.4(MMAB):c.576C>G (p.Ala192=) rs757562796
NM_052845.4(MMAB):c.577G>C (p.Glu193Gln) rs749758687
NM_052845.4(MMAB):c.577G>T (p.Glu193Ter)
NM_052845.4(MMAB):c.578_584dup (p.Val196fs) rs1555274493
NM_052845.4(MMAB):c.580A>G (p.Arg194Gly) rs2136198139
NM_052845.4(MMAB):c.581_582del (p.Arg194fs) rs1592997663
NM_052845.4(MMAB):c.581_582dup (p.Arg195fs) rs1592997663
NM_052845.4(MMAB):c.582A>T (p.Arg194Ser) rs1057519147
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+2T>A rs2548603971
NM_052845.4(MMAB):c.584+2T>C
NM_052845.4(MMAB):c.584+4A>T
NM_052845.4(MMAB):c.584+8G>C rs2548603959
NM_052845.4(MMAB):c.584+9G>C rs1592997609
NM_052845.4(MMAB):c.585-10C>T rs375474421
NM_052845.4(MMAB):c.585-12C>T rs2548602368
NM_052845.4(MMAB):c.585-16T>C rs1884100386
NM_052845.4(MMAB):c.585-2A>C rs1555274254
NM_052845.4(MMAB):c.585-4C>G rs2136195288
NM_052845.4(MMAB):c.585-9C>T rs2548602366
NM_052845.4(MMAB):c.590T>C (p.Val197Ala)
NM_052845.4(MMAB):c.591G>A (p.Val197=) rs2136195257
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927
NM_052845.4(MMAB):c.597T>C (p.Leu199=) rs2548602310
NM_052845.4(MMAB):c.599dup (p.Gln201fs) rs2548602308
NM_052845.4(MMAB):c.604A>G (p.Met202Val) rs1884098738
NM_052845.4(MMAB):c.615C>G (p.Thr205=) rs760629956
NM_052845.4(MMAB):c.620C>A (p.Ala207Glu)
NM_052845.4(MMAB):c.621G>C (p.Ala207=) rs769869903
NM_052845.4(MMAB):c.633G>A (p.Lys211=) rs2548602269
NM_052845.4(MMAB):c.638T>G (p.Leu213Ter) rs2136195113
NM_052845.4(MMAB):c.644+14A>C rs1884095860
NM_052845.4(MMAB):c.644+1G>A rs1592996077
NM_052845.4(MMAB):c.644+4C>G
NM_052845.4(MMAB):c.644+7dup rs2548602236
NM_052845.4(MMAB):c.645-16C>A rs2548600738
NM_052845.4(MMAB):c.645-20CT[6] rs754154826
NM_052845.4(MMAB):c.645-7C>T rs751096268
NM_052845.4(MMAB):c.645-8C>T rs1251570137
NM_052845.4(MMAB):c.649dup (p.Ser217fs) rs1884009515
NM_052845.4(MMAB):c.650G>T (p.Ser217Ile) rs2136192612
NM_052845.4(MMAB):c.656_659del (p.Tyr219fs) rs2136192590
NM_052845.4(MMAB):c.659T>C (p.Leu220Pro) rs1281109870
NM_052845.4(MMAB):c.660_661del (p.Phe221fs) rs1383825118
NM_052845.4(MMAB):c.666G>T (p.Thr222=) rs369296142
NM_052845.4(MMAB):c.683C>T (p.Ala228Val)
NM_052845.4(MMAB):c.691G>T (p.Glu231Ter)
NM_052845.4(MMAB):c.696G>T (p.Gly232=) rs1436258736
NM_052845.4(MMAB):c.701_702del (p.Gln234fs)
NM_052845.4(MMAB):c.702A>G (p.Gln234=) rs2548600675
NM_052845.4(MMAB):c.705G>A (p.Glu235=) rs2548600667
NM_052845.4(MMAB):c.732G>C (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.735C>G (p.Ala245=) rs377015836
NM_052845.4(MMAB):c.735C>T (p.Ala245=) rs377015836

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