ClinVar Miner

List of variants in gene MMAB reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_052845.4(MMAB):c.*3019A>G rs78065254 0.00564
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.*1685G>A rs117011771 0.00244
NM_052845.4(MMAB):c.*1067C>T rs143292900 0.00226
NM_052845.4(MMAB):c.*2342G>A rs72650176 0.00162
NM_052845.4(MMAB):c.*1988C>T rs183354300 0.00111
NM_052845.4(MMAB):c.*2023C>T rs546885397 0.00091
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956 0.00085
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 0.00041
NM_052845.4(MMAB):c.*2740G>A rs139886832 0.00035
NM_052845.4(MMAB):c.*3043T>G rs771530065 0.00031
NM_052845.4(MMAB):c.*503G>A rs766339289 0.00031
NM_052845.4(MMAB):c.*2051C>T rs775263273 0.00026
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.*2914G>A rs759971406 0.00019
NM_052845.4(MMAB):c.*2636A>G rs748949434 0.00017
NM_052845.4(MMAB):c.*554G>A rs562420933 0.00016
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00014
NM_052845.4(MMAB):c.503C>T (p.Thr168Met) rs200690789 0.00014
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627 0.00014
NM_052845.4(MMAB):c.*2053C>T rs545623412 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.*2503G>A rs886048916 0.00010
NM_052845.4(MMAB):c.*509C>T rs886048923 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.401C>T (p.Ser134Leu) rs138708209 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_052845.4(MMAB):c.*1683G>A rs572832766 0.00006
NM_052845.4(MMAB):c.*335G>A rs745373257 0.00006
NM_052845.4(MMAB):c.*691A>C rs886048922 0.00006
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121 0.00006
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu) rs764683053 0.00006
NM_052845.4(MMAB):c.256G>A (p.Val86Met) rs143935056 0.00006
NM_052845.4(MMAB):c.472G>A (p.Asp158Asn) rs925180956 0.00006
NM_052845.4(MMAB):c.*424G>A rs551461624 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.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.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_052845.4(MMAB):c.*1428C>T rs757325398 0.00003
NM_052845.4(MMAB):c.*2739C>T rs759550993 0.00003
NM_052845.4(MMAB):c.316A>G (p.Lys106Glu) rs765917146 0.00003
NM_052845.4(MMAB):c.370G>A (p.Val124Ile) rs573706523 0.00003
NM_052845.4(MMAB):c.377C>T (p.Ser126Leu) rs771053425 0.00003
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu) rs368584846 0.00003
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576 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.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.548A>T (p.His183Leu) rs752866643 0.00002
NM_052845.4(MMAB):c.589G>T (p.Val197Leu) rs780166156 0.00002
NM_052845.4(MMAB):c.*2913C>T rs901387869 0.00001
NM_052845.4(MMAB):c.*716C>T rs886048921 0.00001
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala) rs759809454 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.349-10C>T rs896742047 0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057 0.00001
NM_052845.4(MMAB):c.424T>C (p.Tyr142His) rs886198506 0.00001
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089 0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708 0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_052845.4(MMAB):c.644+6C>T rs376868629 0.00001
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu) rs940651669 0.00001
NM_052845.4(MMAB):c.*1121C>T rs562046988
NM_052845.4(MMAB):c.*1400G>A rs1883946986
NM_052845.4(MMAB):c.*2150A>G rs781473185
NM_052845.4(MMAB):c.*2326C>G rs1210681751
NM_052845.4(MMAB):c.*2392C>T rs1883900272
NM_052845.4(MMAB):c.*2736G>C rs747163137
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.*710C>T rs538702791
NM_052845.4(MMAB):c.161G>A (p.Arg54Lys) rs2136210801
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr) rs147297426
NM_052845.4(MMAB):c.222A>T (p.Glu74Asp) rs1389815526
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.339G>C (p.Glu113Asp) rs2136203868
NM_052845.4(MMAB):c.378G>A (p.Ser126=) rs749452007
NM_052845.4(MMAB):c.388_411del (p.Thr130_Glu137del) rs1555274650
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.425A>C (p.Tyr142Ser)
NM_052845.4(MMAB):c.430A>G (p.Thr144Ala)
NM_052845.4(MMAB):c.490C>T (p.Leu164Phe) rs1393437649
NM_052845.4(MMAB):c.519+13C>T
NM_052845.4(MMAB):c.519+17C>T rs1884195985
NM_052845.4(MMAB):c.541G>A (p.Ala181Thr) rs1439180009
NM_052845.4(MMAB):c.554G>A (p.Cys185Tyr) rs767774574
NM_052845.4(MMAB):c.556C>G (p.Arg186Gly)
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del) rs1555274496
NM_052845.4(MMAB):c.569G>T (p.Arg190Leu)
NM_052845.4(MMAB):c.576C>T (p.Ala192=) rs757562796
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927
NM_052845.4(MMAB):c.604A>G (p.Met202Val) rs1884098738
NM_052845.4(MMAB):c.616G>A (p.Asp206Asn)
NM_052845.4(MMAB):c.652G>A (p.Asp218Asn)
NM_052845.4(MMAB):c.676T>C (p.Tyr226His)
NM_052845.4(MMAB):c.689A>C (p.Lys230Thr)
NM_052845.4(MMAB):c.731C>T (p.Ser244Leu)

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