ClinVar Miner

List of variants in gene MMACHC studied for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 225
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HGVS dbSNP
NC_000001.11:g.(?_45500323)_(45509225_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_015506.3(MMACHC):c.*5C>G rs557994288
NM_015506.3(MMACHC):c.114C>T (p.Ala38=) rs372262322
NM_015506.3(MMACHC):c.122del (p.Leu41fs)
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314
NM_015506.3(MMACHC):c.141C>G (p.Thr47=)
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)
NM_015506.3(MMACHC):c.147C>T (p.Ala49=) rs1570829648
NM_015506.3(MMACHC):c.156A>G (p.Val52=)
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.159C>T (p.Leu53=)
NM_015506.3(MMACHC):c.165G>A (p.Thr55=) rs369883781
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272
NM_015506.3(MMACHC):c.178dup (p.Asp60fs) rs1570829757
NM_015506.3(MMACHC):c.180C>T (p.Asp60=)
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln) rs201777449
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
NM_015506.3(MMACHC):c.199T>C (p.Leu67=) rs1272042617
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
NM_015506.3(MMACHC):c.1A>G (p.Met1Val) rs758477536
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter) rs1570829862
NM_015506.3(MMACHC):c.213C>T (p.His71=)
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995
NM_015506.3(MMACHC):c.231C>T (p.Asp77=)
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=)
NM_015506.3(MMACHC):c.258T>C (p.His86=)
NM_015506.3(MMACHC):c.270T>G (p.Val90=)
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs) rs1553162788
NM_015506.3(MMACHC):c.276+214dup rs3215980
NM_015506.3(MMACHC):c.276G>A (p.Glu92=) rs556977618
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.277-4C>G rs199889403
NM_015506.3(MMACHC):c.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.282C>T (p.Leu94=) rs751229877
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter) rs759188647
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr) rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg) rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter) rs528744719
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=) rs528744719
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254
NM_015506.3(MMACHC):c.33G>A (p.Lys11=) rs770446383
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg)
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203
NM_015506.3(MMACHC):c.364dup (p.His122fs) rs1557607997
NM_015506.3(MMACHC):c.369A>T (p.Val123=)
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter) rs1553162857
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile) rs779893448
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn) rs563710045
NM_015506.3(MMACHC):c.414C>T (p.Asp138=)
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter)
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.423G>A (p.Gly141=)
NM_015506.3(MMACHC):c.423G>C (p.Gly141=) rs1035201847
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter) rs1553162868
NM_015506.3(MMACHC):c.429+1G>C
NM_015506.3(MMACHC):c.42C>T (p.Asp14=)
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys)
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu) rs606231425
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter) rs1002571805
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386
NM_015506.3(MMACHC):c.477C>T (p.Ala159=) rs747698015
NM_015506.3(MMACHC):c.481C>A (p.Arg161=) rs370596113
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala) rs1570832855
NM_015506.3(MMACHC):c.48A>G (p.Leu16=)
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018
NM_015506.3(MMACHC):c.495G>C (p.Leu165=)
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs) rs1553162931
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.545G>A (p.Cys182Tyr) rs372010149
NM_015506.3(MMACHC):c.547_548del (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala) rs780926592
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.564C>T (p.Asp188=)
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909
NM_015506.3(MMACHC):c.570C>T (p.Ile190=)
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val) rs375442063
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)
NM_015506.3(MMACHC):c.574del (p.Leu192fs) rs1553162943
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.579C>G (p.Leu193=)
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)
NM_015506.3(MMACHC):c.599G>A (p.Trp200Ter)
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
NM_015506.3(MMACHC):c.603_604del (p.Asp202fs)
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671
NM_015506.3(MMACHC):c.616del (p.Arg206fs)
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.626_627del (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.626dup (p.Thr210fs) rs1570833527
NM_015506.3(MMACHC):c.627G>C (p.Val209=)
NM_015506.3(MMACHC):c.633C>T (p.Pro211=)
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
NM_015506.3(MMACHC):c.649_650del (p.Glu217fs)
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter) rs201266016
NM_015506.3(MMACHC):c.678A>G (p.Pro226=)
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val) rs201269886
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360
NM_015506.3(MMACHC):c.691T>C (p.Leu231=) rs373198842
NM_015506.3(MMACHC):c.696C>T (p.Ala232=) rs767496391
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.726G>A (p.Lys242=)
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.729T>G (p.Pro243=)
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) rs755881820
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=)
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.753C>T (p.Pro251=)
NM_015506.3(MMACHC):c.75C>A (p.Pro25=) rs749003802
NM_015506.3(MMACHC):c.762A>G (p.Thr254=)
NM_015506.3(MMACHC):c.765C>T (p.Pro255=) rs772078967
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)
NM_015506.3(MMACHC):c.771C>G (p.Pro257=)
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)
NM_015506.3(MMACHC):c.798C>T (p.Ala266=) rs201813445
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
NM_015506.3(MMACHC):c.804C>T (p.Ser268=)
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787
NM_015506.3(MMACHC):c.81+10T>G
NM_015506.3(MMACHC):c.81+1G>A
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601
NM_015506.3(MMACHC):c.813C>T (p.Ser271=)
NM_015506.3(MMACHC):c.816C>A (p.Pro272=)
NM_015506.3(MMACHC):c.81G>A (p.Gln27=) rs1553162317
NM_015506.3(MMACHC):c.82-10T>C
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)
NM_015506.3(MMACHC):c.822C>A (p.Val274=) rs746114287
NM_015506.3(MMACHC):c.822C>G (p.Val274=)
NM_015506.3(MMACHC):c.828A>C (p.Pro276=)
NM_015506.3(MMACHC):c.828A>G (p.Pro276=)
NM_015506.3(MMACHC):c.839del (p.Pro280fs) rs1553163017
NM_015506.3(MMACHC):c.840del (p.Gly281fs) rs757384010
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015506.3(MMACHC):c.848_*2del (p.Ter283PheextTer?) rs1553163021
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?) rs1553163024
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp) rs769732556
NM_015506.3(MMACHC):c.849del (p.Ter283CysextTer?) rs1553163027
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg) rs745419717
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343

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