ClinVar Miner

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

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.*5C>G rs557994288
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.277-8_277-3dup rs756072947
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del) rs1553162848
NM_015506.3(MMACHC):c.392_394del (p.Gln131del) rs779234540
NM_015506.3(MMACHC):c.395_397del (p.Arg132del) rs1455190457
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu) rs886046368
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del) rs747550590
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr) rs1161394470
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386
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.544T>C (p.Cys182Arg) rs955468279
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.566G>A (p.Arg189His) rs761221416
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)
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.650A>T (p.Glu217Val) rs199641732
NM_015506.3(MMACHC):c.701del (p.Leu234fs) rs767339897
NM_015506.3(MMACHC):c.728del (p.Pro243fs) rs1409915649
NM_015506.3(MMACHC):c.745dup (p.Asp249fs) rs1553162993
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.82-11_82-8del rs751236442
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)

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