ClinVar Miner

List of variants in gene MMACHC studied for classic organic aciduria

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP
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.126G>A (p.Pro42=) rs201112314
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272
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.1A>G (p.Met1Val) rs758477536
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter) rs796051995
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter) rs1553162786
NM_015506.3(MMACHC):c.271_272AG[2] (p.Glu92fs) rs1553162788
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.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.285dup (p.Glu96fs) rs1553162821
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.316G>A (p.Glu106Lys) rs201617713
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.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.364C>A (p.His122Asn) rs372918203
NM_015506.3(MMACHC):c.364dup (p.His122fs) rs1557607997
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.382_384TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.384del (p.Tyr129fs) rs1347498294
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.403G>T (p.Val135Leu) rs886046368
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter) rs1553162868
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.446G>A (p.Cys149Tyr) rs1161394470
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789
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.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)
NM_015506.3(MMACHC):c.491_493TGC[2] (p.Leu166del) rs1249948465
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.500del (p.Pro167fs) rs1553162918
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.545_546GT[1] (p.Val183fs) rs1305170860
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
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.572C>T (p.Ala191Val)
NM_015506.3(MMACHC):c.574del (p.Leu192fs) rs1553162943
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294
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.616C>T (p.Arg206Trp) rs538023671
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.619dup (p.Asp207fs) rs765913293
NM_015506.3(MMACHC):c.624_625TG[1] (p.Val209fs) rs1356587420
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val) rs199641732
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.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter) rs755881820
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.771dup (p.Lys258fs) rs763886783
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg) rs546099787
NM_015506.3(MMACHC):c.81+2T>G rs777251123
NM_015506.3(MMACHC):c.81G>A (p.Gln27=) rs1553162317
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015506.3(MMACHC):c.82-1G>A rs1255179780
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)
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343

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