ClinVar Miner

List of variants in gene MMAB reported as likely benign for classic organic aciduria

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.584+24A>G rs78599682 0.07842
NM_052845.4(MMAB):c.*1409G>A rs72650177 0.05424
NM_052845.4(MMAB):c.*2186T>C rs147647465 0.00246
NM_052845.4(MMAB):c.*404T>G rs148289390 0.00240
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452 0.00139
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388 0.00048
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn) rs147297426 0.00030
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276 0.00021
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627 0.00014
NM_052845.4(MMAB):c.666G>A (p.Thr222=) rs369296142 0.00011
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.150G>A (p.Ser50=) rs754357121 0.00006
NM_052845.4(MMAB):c.665C>T (p.Thr222Met) rs142070439 0.00005
NM_052845.4(MMAB):c.168C>G (p.Pro56=) rs752857938 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.291-18T>C rs145147836 0.00003
NM_052845.4(MMAB):c.348+17C>T rs202141416 0.00003
NM_052845.4(MMAB):c.519+10G>A rs771725706 0.00003
NM_052845.4(MMAB):c.644+9G>A rs748589454 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.298C>T (p.Leu100=) rs751553040 0.00002
NM_052845.4(MMAB):c.372C>T (p.Val124=) rs371092213 0.00002
NM_052845.4(MMAB):c.519+19T>A rs904409660 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.135-4T>C rs1025409144 0.00001
NM_052845.4(MMAB):c.177C>T (p.Tyr59=) rs2136210789 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.240C>T (p.Asp80=) rs745393254 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.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.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.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.576C>T (p.Ala192=) rs757562796 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.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.615C>T (p.Thr205=) rs760629956 0.00001
NM_052845.4(MMAB):c.621G>A (p.Ala207=) rs769869903 0.00001
NM_052845.4(MMAB):c.644+17T>C rs1187542234 0.00001
NM_052845.4(MMAB):c.645-8C>G rs1251570137 0.00001
NM_052845.4(MMAB):c.660C>G (p.Leu220=) rs762187403 0.00001
NM_052845.4(MMAB):c.135-12A>T rs779361459
NM_052845.4(MMAB):c.135-19G>A rs758112774
NM_052845.4(MMAB):c.135-8C>T rs2136210870
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.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.197-7T>C rs1884534638
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.225G>A (p.Arg75=) rs267603297
NM_052845.4(MMAB):c.243A>G (p.Gln81=) rs1473011297
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.282A>G (p.Ser94=)
NM_052845.4(MMAB):c.290+19G>T rs2548610911
NM_052845.4(MMAB):c.290+7G>C rs2548610926
NM_052845.4(MMAB):c.290+8G>T rs2548610925
NM_052845.4(MMAB):c.291-15C>G rs2548608081
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.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.349-14C>G rs1452207959
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.349-9G>C
NM_052845.4(MMAB):c.360A>C (p.Thr120=) rs1393235772
NM_052845.4(MMAB):c.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.381C>T (p.Ala127=) rs1204546700
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.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+7C>A rs1192166753
NM_052845.4(MMAB):c.422-19del rs2548604852
NM_052845.4(MMAB):c.422-5_422-3del rs2136199438
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.483C>T (p.Thr161=) rs2548604690
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.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.555C>T (p.Cys185=) rs2548604086
NM_052845.4(MMAB):c.556C>A (p.Arg186=) rs28941784
NM_052845.4(MMAB):c.561C>G (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.564G>A (p.Val188=) rs2548604057
NM_052845.4(MMAB):c.570C>T (p.Arg190=) rs1448685745
NM_052845.4(MMAB):c.573G>C (p.Arg191=) rs2136198226
NM_052845.4(MMAB):c.576C>G (p.Ala192=) rs757562796
NM_052845.4(MMAB):c.584+14_584+33del rs1555274482
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.585-4C>G rs2136195288
NM_052845.4(MMAB):c.585-9C>T rs2548602366
NM_052845.4(MMAB):c.591G>A (p.Val197=) rs2136195257
NM_052845.4(MMAB):c.597T>C (p.Leu199=) rs2548602310
NM_052845.4(MMAB):c.615C>G (p.Thr205=) rs760629956
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.644+14A>C rs1884095860
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.666G>T (p.Thr222=) rs369296142
NM_052845.4(MMAB):c.696G>T (p.Gly232=) rs1436258736
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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