List of variants in gene MMACHC reported as uncertain significance for inborn disorder of cobalamin metabolism and transport

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)	rs200300254	0.00123
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)	rs201617713	0.00081
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)	rs201898615	0.00038
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)	rs377405910	0.00030
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	rs201312386	0.00019
NM_015506.3(MMACHC):c.770C>T (p.Pro257Leu)	rs201601241	0.00014
NM_015506.3(MMACHC):c.584G>C (p.Gly195Ala)	rs754862915	0.00013
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	rs372918203	0.00012
NM_015506.3(MMACHC):c.329A>G (p.Asn110Ser)	rs781133955	0.00005
NM_015506.3(MMACHC):c.296T>C (p.Ile99Thr)	rs370229341	0.00004
NM_015506.3(MMACHC):c.733T>C (p.Ser245Pro)	rs779575471	0.00004
NM_015506.3(MMACHC):c.88T>C (p.Trp30Arg)	rs745419717	0.00004
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_015506.3(MMACHC):c.-123A>T	rs539415170	0.00002
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)	rs371004372	0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	rs765822392	0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs)	rs757384010	0.00002
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)	rs780981680	0.00001
NM_015506.3(MMACHC):c.222G>C (p.Met74Ile)	rs772225967	0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly)	rs1217366809	0.00001
NM_015506.3(MMACHC):c.334C>T (p.Arg112Cys)	rs187869948	0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)	rs752205161	0.00001
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala)	rs1010232462	0.00001
NM_015506.3(MMACHC):c.403G>T (p.Val135Leu)	rs886046368	0.00001
NM_015506.3(MMACHC):c.406G>A (p.Glu136Lys)	rs374086070	0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)	rs759921519	0.00001
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)	rs1161394470	0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)	rs780926592	0.00001
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp)	rs769732556	0.00001
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NM_015506.3(MMACHC):c.*5C>G	rs557994288
NM_015506.3(MMACHC):c.137C>G (p.Pro46Arg)	rs2149323209
NM_015506.3(MMACHC):c.140C>A (p.Thr47Asn)
NM_015506.3(MMACHC):c.140C>T (p.Thr47Ile)
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)	rs775502093
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)	rs750127773
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)	rs201777449
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile)	rs772225967
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.276+5G>A
NM_015506.3(MMACHC):c.277-8_277-3dup	rs756072947
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val)	rs1553162829
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)	rs1557607881
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)	rs758730415
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)	rs2149323547
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.354_365del (p.Gln118_Ala121del)	rs1643666069
NM_015506.3(MMACHC):c.356C>G (p.Thr119Arg)	rs1006520706
NM_015506.3(MMACHC):c.358G>T (p.Ala120Ser)
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del)	rs1553162848
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
NM_015506.3(MMACHC):c.392_394del (p.Gln131del)	rs779234540
NM_015506.3(MMACHC):c.393A>C (p.Gln131His)	rs2149323606
NM_015506.3(MMACHC):c.395G>A (p.Arg132Gln)	rs369335868
NM_015506.3(MMACHC):c.395_397del (p.Arg132del)	rs1455190457
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)	rs74365027
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)	rs747550590
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)	rs796051999
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)	rs1553162910
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)	rs1570832855
NM_015506.3(MMACHC):c.490G>A (p.Val164Met)	rs1417321919
NM_015506.3(MMACHC):c.491TGC[2] (p.Leu166del)	rs1249948465
NM_015506.3(MMACHC):c.502G>A (p.Gly168Arg)
NM_015506.3(MMACHC):c.503G>A (p.Gly168Glu)
NM_015506.3(MMACHC):c.506T>C (p.Ile169Thr)	rs1643678565
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
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.547G>A (p.Val183Ile)
NM_015506.3(MMACHC):c.553A>C (p.Thr185Pro)
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del)	rs1553162937
NM_015506.3(MMACHC):c.562G>A (p.Asp188Asn)	rs748747319
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)	rs375442063
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
NM_015506.3(MMACHC):c.701T>C (p.Leu234Ser)
NM_015506.3(MMACHC):c.701del (p.Leu234fs)	rs767339897
NM_015506.3(MMACHC):c.704del (p.Gly235fs)
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
NM_015506.3(MMACHC):c.728del (p.Pro243fs)	rs1409915649
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)	rs564280688
NM_015506.3(MMACHC):c.743C>T (p.Pro248Leu)
NM_015506.3(MMACHC):c.745dup (p.Asp249fs)	rs1553162993
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
NM_015506.3(MMACHC):c.763C>G (p.Pro255Ala)	rs533256855
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser)	rs533256855
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.792_818del (p.Ser264_Pro272del)	rs753855245
NM_015506.3(MMACHC):c.795_*18delinsGTATGGTA (p.Ala266fs)	rs1643689610
NM_015506.3(MMACHC):c.799C>G (p.Arg267Gly)	rs34258482
NM_015506.3(MMACHC):c.799dup (p.Arg267fs)	rs1553163005
NM_015506.3(MMACHC):c.82-11_82-8del	rs751236442
NM_015506.3(MMACHC):c.829C>T (p.Pro277Ser)
NM_015506.3(MMACHC):c.839del (p.Pro280fs)	rs1553163017
NM_015506.3(MMACHC):c.844C>A (p.Pro282Thr)	rs1553163019
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
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.849del (p.Ter283CysextTer?)	rs1553163027

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