List of variants in gene MMACHC studied for anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 430

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.321G>A (p.Val107=)	rs2275276	0.43226
NM_015506.3(MMACHC):c.*279A>G	rs9729395	0.22677
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly)	rs35219601	0.04960
NM_015506.3(MMACHC):c.178G>C (p.Asp60His)	rs6662272	0.02835
NM_015506.3(MMACHC):c.738C>T (p.Pro246=)	rs16832550	0.01337
NM_015506.3(MMACHC):c.*269A>G	rs35067820	0.01308
NM_015506.3(MMACHC):c.276+17T>A	rs115028762	0.00201
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)	rs200300254	0.00123
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)	rs201617713	0.00081
NM_015506.3(MMACHC):c.798C>T (p.Ala266=)	rs201813445	0.00075
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_015506.3(MMACHC):c.277-4C>G	rs199889403	0.00045
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)	rs201898615	0.00038
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)	rs373198842	0.00038
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)	rs377405910	0.00030
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)	rs201112314	0.00025
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)	rs201312386	0.00019
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg)	rs201807738	0.00019
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	rs200094982	0.00014
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.799C>T (p.Arg267Trp)	rs34258482	0.00013
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	rs372918203	0.00012
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	rs121918242	0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)	rs776623221	0.00011
NM_015506.3(MMACHC):c.165G>A (p.Thr55=)	rs369883781	0.00010
NM_015506.3(MMACHC):c.462T>C (p.Phe154=)	rs199747998	0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=)	rs377439596	0.00009
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_015506.3(MMACHC):c.*10A>G	rs367574509	0.00006
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=)	rs528744719	0.00006
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)	rs200276195	0.00006
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)	rs569132013	0.00006
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.402T>C (p.Asp134=)	rs774024065	0.00004
NM_015506.3(MMACHC):c.423G>C (p.Gly141=)	rs1035201847	0.00004
NM_015506.3(MMACHC):c.42C>T (p.Asp14=)	rs141562335	0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)	rs199964843	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.156A>G (p.Val52=)	rs763931975	0.00003
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)	rs747214324	0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)	rs761111018	0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_015506.3(MMACHC):c.82-10T>C	rs778416032	0.00003
NM_015506.3(MMACHC):c.831T>C (p.Pro277=)	rs1322086708	0.00003
NM_015506.3(MMACHC):c.-123A>T	rs539415170	0.00002
NM_015506.3(MMACHC):c.105G>A (p.Leu35=)	rs1415635839	0.00002
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)	rs556977618	0.00002
NM_015506.3(MMACHC):c.354G>A (p.Gln118=)	rs765769901	0.00002
NM_015506.3(MMACHC):c.414C>T (p.Asp138=)	rs775173474	0.00002
NM_015506.3(MMACHC):c.429+14T>G	rs371226986	0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	rs757325789	0.00002
NM_015506.3(MMACHC):c.53C>T (p.Pro18Leu)	rs371004372	0.00002
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)	rs762919217	0.00002
NM_015506.3(MMACHC):c.765C>T (p.Pro255=)	rs772078967	0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	rs765822392	0.00002
NM_015506.3(MMACHC):c.810C>T (p.Leu270=)	rs778330842	0.00002
NM_015506.3(MMACHC):c.840del (p.Gly281fs)	rs757384010	0.00002
NM_015506.3(MMACHC):c.114C>T (p.Ala38=)	rs372262322	0.00001
NM_015506.3(MMACHC):c.14T>A (p.Val5Asp)	rs780981680	0.00001
NM_015506.3(MMACHC):c.159C>T (p.Leu53=)	rs371927733	0.00001
NM_015506.3(MMACHC):c.180C>T (p.Asp60=)	rs535215325	0.00001
NM_015506.3(MMACHC):c.199T>C (p.Leu67=)	rs1272042617	0.00001
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)	rs758477536	0.00001
NM_015506.3(MMACHC):c.213C>T (p.His71=)	rs746112343	0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	rs796051995	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.258T>C (p.His86=)	rs1005452717	0.00001
NM_015506.3(MMACHC):c.276+10G>A	rs1229858789	0.00001
NM_015506.3(MMACHC):c.282C>T (p.Leu94=)	rs751229877	0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)	rs759188647	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.384del (p.Tyr129fs)	rs1347498294	0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)	rs372670428	0.00001
NM_015506.3(MMACHC):c.38A>C (p.Glu13Ala)	rs1010232462	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)	rs746135357	0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)	rs779893448	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.40G>A (p.Asp14Asn)	rs563710045	0.00001
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)	rs796051996	0.00001
NM_015506.3(MMACHC):c.423G>A (p.Gly141=)	rs1035201847	0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr)	rs759921519	0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)	rs768978351	0.00001
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser)	rs1553162901	0.00001
NM_015506.3(MMACHC):c.446G>A (p.Cys149Tyr)	rs1161394470	0.00001
NM_015506.3(MMACHC):c.477C>T (p.Ala159=)	rs747698015	0.00001
NM_015506.3(MMACHC):c.48A>G (p.Leu16=)	rs1366120426	0.00001
NM_015506.3(MMACHC):c.520C>T (p.Leu174=)	rs1298700969	0.00001
NM_015506.3(MMACHC):c.548T>C (p.Val183Ala)	rs780926592	0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	rs1463495909	0.00001
NM_015506.3(MMACHC):c.570C>T (p.Ile190=)	rs769162698	0.00001
NM_015506.3(MMACHC):c.696C>T (p.Ala232=)	rs767496391	0.00001
NM_015506.3(MMACHC):c.726G>A (p.Lys242=)	rs750002717	0.00001
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=)	rs755881820	0.00001
NM_015506.3(MMACHC):c.75C>A (p.Pro25=)	rs749003802	0.00001
NM_015506.3(MMACHC):c.771C>G (p.Pro257=)	rs376037114	0.00001
NM_015506.3(MMACHC):c.792C>T (p.Ser264=)	rs1458150108	0.00001
NM_015506.3(MMACHC):c.804C>T (p.Ser268=)	rs941778714	0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)	rs546099787	0.00001
NM_015506.3(MMACHC):c.828A>G (p.Pro276=)	rs1288893138	0.00001
NM_015506.3(MMACHC):c.849A>G (p.Ter283Trp)	rs769732556	0.00001
NC_000001.10:g.(?_45965995)_(45966095_?)del
NC_000001.10:g.(?_45974458)_(45974897_?)del
NC_000001.11:g.(?_45500323)_(45509225_?)del
NC_000001.11:g.(?_45507336)_(45509235_?)dup
NM_001330540.2(MMACHC):c.-90del
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_015506.3(MMACHC):c.*5C>G	rs557994288
NM_015506.3(MMACHC):c.120C>T (p.His40=)
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)	rs2149323203
NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)
NM_015506.3(MMACHC):c.129G>A (p.Leu43=)
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.141C>G (p.Thr47=)	rs936938761
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
NM_015506.3(MMACHC):c.145G>A (p.Ala49Thr)
NM_015506.3(MMACHC):c.145G>C (p.Ala49Pro)	rs775502093
NM_015506.3(MMACHC):c.147C>T (p.Ala49=)	rs1570829648
NM_015506.3(MMACHC):c.14_24del (p.Val5fs)
NM_015506.3(MMACHC):c.151_152del (p.Leu51fs)
NM_015506.3(MMACHC):c.153G>A (p.Leu51=)
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)	rs756980496
NM_015506.3(MMACHC):c.15C>T (p.Val5=)	rs902026116
NM_015506.3(MMACHC):c.162C>G (p.Ser54Arg)	rs750127773
NM_015506.3(MMACHC):c.162C>T (p.Ser54=)
NM_015506.3(MMACHC):c.164C>T (p.Thr55Met)
NM_015506.3(MMACHC):c.165G>T (p.Thr55=)
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)	rs1570829757
NM_015506.3(MMACHC):c.182G>A (p.Arg61Gln)	rs201777449
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)	rs201777449
NM_015506.3(MMACHC):c.187del (p.Leu63fs)	rs1343936481
NM_015506.3(MMACHC):c.189C>T (p.Leu63=)
NM_015506.3(MMACHC):c.189_196dup (p.Phe66fs)
NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter)	rs1570829862
NM_015506.3(MMACHC):c.210C>T (p.Cys70=)	rs2149323253
NM_015506.3(MMACHC):c.222G>T (p.Met74Ile)	rs772225967
NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)
NM_015506.3(MMACHC):c.231C>T (p.Asp77=)	rs2149323265
NM_015506.3(MMACHC):c.234A>C (p.Pro78=)
NM_015506.3(MMACHC):c.245G>A (p.Cys82Tyr)
NM_015506.3(MMACHC):c.254A>C (p.Tyr85Ser)
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=)	rs2149323280
NM_015506.3(MMACHC):c.259C>T (p.Leu87=)	rs776402014
NM_015506.3(MMACHC):c.264C>T (p.Gly88=)
NM_015506.3(MMACHC):c.265C>T (p.Arg89Cys)
NM_015506.3(MMACHC):c.266G>A (p.Arg89His)
NM_015506.3(MMACHC):c.270T>G (p.Val90=)	rs2149323292
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter)	rs1553162786
NM_015506.3(MMACHC):c.273A>G (p.Arg91=)
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)	rs1553162788
NM_015506.3(MMACHC):c.276+13C>G	rs543041810
NM_015506.3(MMACHC):c.276+13C>T
NM_015506.3(MMACHC):c.276+13_276+14del
NM_015506.3(MMACHC):c.276+17T>C
NM_015506.3(MMACHC):c.276+20C>T
NM_015506.3(MMACHC):c.276+2T>C
NM_015506.3(MMACHC):c.276+2del
NM_015506.3(MMACHC):c.276+5G>A
NM_015506.3(MMACHC):c.276+8A>G
NM_015506.3(MMACHC):c.276+9G>A
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	rs556977618
NM_015506.3(MMACHC):c.277-10A>C
NM_015506.3(MMACHC):c.277-13T>C
NM_015506.3(MMACHC):c.277-14G>A
NM_015506.3(MMACHC):c.277-15T>G
NM_015506.3(MMACHC):c.277-17_277-16insA
NM_015506.3(MMACHC):c.277-1G>A
NM_015506.3(MMACHC):c.277-20T>C
NM_015506.3(MMACHC):c.277-2A>G	rs202000595
NM_015506.3(MMACHC):c.277-4C>A	rs199889403
NM_015506.3(MMACHC):c.277-4C>T
NM_015506.3(MMACHC):c.277-6T>C
NM_015506.3(MMACHC):c.277-7G>A	rs1258697986
NM_015506.3(MMACHC):c.277-8_277-3dup	rs756072947
NM_015506.3(MMACHC):c.277-9C>T
NM_015506.3(MMACHC):c.27G>A (p.Lys9=)
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	rs1553162821
NM_015506.3(MMACHC):c.286G>A (p.Glu96Lys)
NM_015506.3(MMACHC):c.288G>A (p.Glu96=)	rs1643664191
NM_015506.3(MMACHC):c.291G>A (p.Leu97=)	rs566356386
NM_015506.3(MMACHC):c.297A>C (p.Ile99=)
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.30G>A (p.Gln10=)
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)	rs1311416761
NM_015506.3(MMACHC):c.311A>T (p.Asp104Val)	rs1553162829
NM_015506.3(MMACHC):c.312C>T (p.Asp104=)
NM_015506.3(MMACHC):c.313_315del (p.Tyr105del)	rs1557607881
NM_015506.3(MMACHC):c.315C>A (p.Tyr105Ter)	rs528744719
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)	rs528744719
NM_015506.3(MMACHC):c.318G>A (p.Glu106=)
NM_015506.3(MMACHC):c.319G>A (p.Val107Met)	rs758730415
NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs)
NM_015506.3(MMACHC):c.327_329delinsATTGCTGACTAC (p.Asn110delinsLeuLeuThrThr)	rs2149323547
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	rs796052000
NM_015506.3(MMACHC):c.339C>G (p.Pro113=)	rs2149323560
NM_015506.3(MMACHC):c.33G>A (p.Lys11=)	rs770446383
NM_015506.3(MMACHC):c.343A>G (p.Ile115Val)
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met)	rs2149323564
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val)	rs2149323564
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	rs121918240
NM_015506.3(MMACHC):c.352C>T (p.Gln118Ter)	rs2149323575
NM_015506.3(MMACHC):c.352del (p.Gln118fs)	rs749264632
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.360A>C (p.Ala120=)
NM_015506.3(MMACHC):c.364dup (p.His122fs)	rs1557607997
NM_015506.3(MMACHC):c.366T>A (p.His122Gln)	rs1643666556
NM_015506.3(MMACHC):c.366T>C (p.His122=)	rs1643666556
NM_015506.3(MMACHC):c.366T>G (p.His122Gln)	rs1643666556
NM_015506.3(MMACHC):c.369A>T (p.Val123=)	rs1643666589
NM_015506.3(MMACHC):c.36C>T (p.Ile12=)
NM_015506.3(MMACHC):c.36del (p.Ile12fs)
NM_015506.3(MMACHC):c.372T>C (p.Ala124=)
NM_015506.3(MMACHC):c.373_381del (p.Gly125_Ala127del)	rs1553162848
NM_015506.3(MMACHC):c.375G>C (p.Gly125=)
NM_015506.3(MMACHC):c.375G>T (p.Gly125=)
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	rs796051998
NM_015506.3(MMACHC):c.385T>C (p.Tyr129His)
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.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.405G>A (p.Val135=)
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter)	rs1643667928
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter)	rs2149323618
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)	rs1553162868
NM_015506.3(MMACHC):c.429+12A>C
NM_015506.3(MMACHC):c.429+13del
NM_015506.3(MMACHC):c.429+14T>A
NM_015506.3(MMACHC):c.429+14T>C
NM_015506.3(MMACHC):c.429+18_429+21del
NM_015506.3(MMACHC):c.429+1G>C	rs1643668441
NM_015506.3(MMACHC):c.429+20T>C
NM_015506.3(MMACHC):c.429+20T>G
NM_015506.3(MMACHC):c.429+7G>A	rs1227206156
NM_015506.3(MMACHC):c.429+7_429+31del	rs2149323628
NM_015506.3(MMACHC):c.429+9G>C
NM_015506.3(MMACHC):c.430-10C>A
NM_015506.3(MMACHC):c.430-10C>T	rs550692873
NM_015506.3(MMACHC):c.430-11C>T
NM_015506.3(MMACHC):c.430-12C>T
NM_015506.3(MMACHC):c.430-13A>T
NM_015506.3(MMACHC):c.430-16T>C
NM_015506.3(MMACHC):c.430-1G>A
NM_015506.3(MMACHC):c.430-2A>G
NM_015506.3(MMACHC):c.430-8C>T	rs1217401490
NM_015506.3(MMACHC):c.432C>T (p.Arg144=)
NM_015506.3(MMACHC):c.433A>G (p.Ile145Val)	rs74365027
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)	rs74365027
NM_015506.3(MMACHC):c.433del (p.Ile145fs)
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)	rs2149323799
NM_015506.3(MMACHC):c.436_450del (p.Ser146_Ile150del)	rs747550590
NM_015506.3(MMACHC):c.438A>G (p.Ser146=)
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.441T>A (p.Gly147=)
NM_015506.3(MMACHC):c.441T>C (p.Gly147=)
NM_015506.3(MMACHC):c.441T>G (p.Gly147=)
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)	rs2149323805
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)	rs796051999
NM_015506.3(MMACHC):c.449T>A (p.Ile150Lys)	rs756413692
NM_015506.3(MMACHC):c.449_452dup (p.Pro152fs)
NM_015506.3(MMACHC):c.451_461del (p.His151fs)
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)
NM_015506.3(MMACHC):c.455_457del (p.Pro152del)
NM_015506.3(MMACHC):c.45G>A (p.Thr15=)	rs750623781
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)
NM_015506.3(MMACHC):c.460T>C (p.Phe154Leu)
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu)	rs606231425
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser)	rs768353633
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)	rs1553162910
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)	rs1002571805
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys)	rs1002571805
NM_015506.3(MMACHC):c.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)
NM_015506.3(MMACHC):c.478_481del (p.Ile160fs)	rs2149323826
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.482G>T (p.Arg161Leu)
NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)
NM_015506.3(MMACHC):c.486G>A (p.Gly162=)
NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)
NM_015506.3(MMACHC):c.488T>C (p.Val163Ala)	rs1570832855
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)	rs765960386
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.495G>C (p.Leu165=)	rs761111018
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)	rs1481893137
NM_015506.3(MMACHC):c.498G>A (p.Leu166=)
NM_015506.3(MMACHC):c.500del (p.Pro167fs)	rs1553162918
NM_015506.3(MMACHC):c.501A>C (p.Pro167=)	rs1366306237
NM_015506.3(MMACHC):c.501A>G (p.Pro167=)	rs1366306237
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.506_507del (p.Ile169fs)	rs2149323855
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)	rs1553162923
NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter)
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
NM_015506.3(MMACHC):c.52C>T (p.Pro18Ser)
NM_015506.3(MMACHC):c.534del (p.Lys178fs)	rs2149323872
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs)	rs1553162931
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
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.546T>C (p.Cys182=)	rs2149323890
NM_015506.3(MMACHC):c.547G>A (p.Val183Ile)
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)	rs1305170860
NM_015506.3(MMACHC):c.549A>C (p.Val183=)
NM_015506.3(MMACHC):c.54T>A (p.Pro18=)
NM_015506.3(MMACHC):c.54T>C (p.Pro18=)
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)	rs1553162934
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.564C>T (p.Asp188=)	rs1397062260
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)	rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs)	rs1257204721
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
NM_015506.3(MMACHC):c.572C>T (p.Ala191Val)	rs375442063
NM_015506.3(MMACHC):c.573C>T (p.Ala191=)	rs750572915
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=)	rs766342926
NM_015506.3(MMACHC):c.579C>T (p.Leu193=)
NM_015506.3(MMACHC):c.588C>T (p.Phe196=)
NM_015506.3(MMACHC):c.590A>G (p.Asn197Ser)
NM_015506.3(MMACHC):c.591T>C (p.Asn197=)
NM_015506.3(MMACHC):c.598T>C (p.Trp200Arg)
NM_015506.3(MMACHC):c.63C>T (p.Phe21=)	rs2149320920
NM_015506.3(MMACHC):c.696C>G (p.Ala232=)	rs767496391
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.708G>A (p.Leu236=)
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)
NM_015506.3(MMACHC):c.717_728del (p.Glu241_Ser244del)
NM_015506.3(MMACHC):c.720A>G (p.Ser240=)	rs764969563
NM_015506.3(MMACHC):c.720dup (p.Glu241fs)
NM_015506.3(MMACHC):c.728del (p.Pro243fs)	rs1409915649
NM_015506.3(MMACHC):c.729T>C (p.Pro243=)	rs891106099
NM_015506.3(MMACHC):c.729T>G (p.Pro243=)	rs891106099
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter)	rs755881820
NM_015506.3(MMACHC):c.732T>C (p.Ser244=)	rs1173232857
NM_015506.3(MMACHC):c.738C>A (p.Pro246=)
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.753C>A (p.Pro251=)	rs1643688309
NM_015506.3(MMACHC):c.753C>T (p.Pro251=)	rs1643688309
NM_015506.3(MMACHC):c.754T>C (p.Phe252Leu)
NM_015506.3(MMACHC):c.75C>T (p.Pro25=)
NM_015506.3(MMACHC):c.762A>C (p.Thr254=)
NM_015506.3(MMACHC):c.762A>G (p.Thr254=)	rs771203889
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.771C>T (p.Pro257=)
NM_015506.3(MMACHC):c.771dup (p.Lys258fs)	rs763886783
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
NM_015506.3(MMACHC):c.78C>T (p.Phe26=)	rs770431439
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.801G>A (p.Arg267=)	rs751017212
NM_015506.3(MMACHC):c.81+10T>G	rs2149320953
NM_015506.3(MMACHC):c.81+11C>A
NM_015506.3(MMACHC):c.81+13C>G
NM_015506.3(MMACHC):c.81+13C>T
NM_015506.3(MMACHC):c.81+15C>T
NM_015506.3(MMACHC):c.81+17T>C
NM_015506.3(MMACHC):c.81+1G>A	rs745366624
NM_015506.3(MMACHC):c.81+1G>C
NM_015506.3(MMACHC):c.81+1G>T
NM_015506.3(MMACHC):c.81+2T>C
NM_015506.3(MMACHC):c.81+2T>G	rs777251123
NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly)
NM_015506.3(MMACHC):c.813C>T (p.Ser271=)	rs1311947307
NM_015506.3(MMACHC):c.816C>A (p.Pro272=)	rs754568180
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.82-16G>C
NM_015506.3(MMACHC):c.82-17T>C
NM_015506.3(MMACHC):c.82-18C>T
NM_015506.3(MMACHC):c.82-1G>A	rs1255179780
NM_015506.3(MMACHC):c.82-2A>G
NM_015506.3(MMACHC):c.82-7G>A
NM_015506.3(MMACHC):c.82-8T>C
NM_015506.3(MMACHC):c.822C>A (p.Val274=)	rs746114287
NM_015506.3(MMACHC):c.822C>G (p.Val274=)	rs746114287
NM_015506.3(MMACHC):c.828A>C (p.Pro276=)	rs1288893138
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.846T>C (p.Pro282=)
NM_015506.3(MMACHC):c.847T>C (p.Ter283Arg)
NM_015506.3(MMACHC):c.848G>A (p.Ter283=)
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
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)	rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	rs771673343
NM_015506.3(MMACHC):c.90_97del (p.Trp30_Glu33delinsTer)	rs1289618918
NM_015506.3(MMACHC):c.93C>A (p.Tyr31Ter)
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
NM_015506.3(MMACHC):c.9G>A (p.Pro3=)
NM_015506.3:c.275_278del

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