List of variants in gene MMACHC reported as pathogenic for hematologic disorder

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: 95

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	rs200094982	0.00014
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	rs121918242	0.00011
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp)	rs556977618	0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	rs757325789	0.00002
NM_015506.3(MMACHC):c.1A>G (p.Met1Val)	rs758477536	0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	rs796051995	0.00001
NM_015506.3(MMACHC):c.292C>T (p.Gln98Ter)	rs759188647	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.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.420G>A (p.Trp140Ter)	rs796051996	0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)	rs768978351	0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	rs1463495909	0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)	rs546099787	0.00001
NC_000001.10:g.(?_45965995)_(45966095_?)del
NC_000001.10:g.(?_45974458)_(45974897_?)del
NC_000001.11:g.(?_45500323)_(45509225_?)del
NM_001330540.2(MMACHC):c.-90del
NM_015506.3(MMACHC):c.123dup (p.Pro42fs)	rs2149323203
NM_015506.3(MMACHC):c.126_141del (p.Leu43fs)
NM_015506.3(MMACHC):c.14_24del (p.Val5fs)
NM_015506.3(MMACHC):c.151_152del (p.Leu51fs)
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)	rs756980496
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)	rs1570829757
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)	rs201777449
NM_015506.3(MMACHC):c.187del (p.Leu63fs)	rs1343936481
NM_015506.3(MMACHC):c.1A>T (p.Met1Leu)
NM_015506.3(MMACHC):c.228_231del (p.Asp77fs)
NM_015506.3(MMACHC):c.270dup (p.Arg91Ter)	rs1553162786
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	rs556977618
NM_015506.3(MMACHC):c.281_290del (p.Leu94fs)
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>A (p.Tyr105Ter)	rs528744719
NM_015506.3(MMACHC):c.315C>G (p.Tyr105Ter)	rs528744719
NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs)
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	rs796052000
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.364dup (p.His122fs)	rs1557607997
NM_015506.3(MMACHC):c.36del (p.Ile12fs)
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)	rs796051998
NM_015506.3(MMACHC):c.419G>A (p.Trp140Ter)	rs2149323618
NM_015506.3(MMACHC):c.429+1G>C	rs1643668441
NM_015506.3(MMACHC):c.430-2A>G
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.440G>A (p.Gly147Asp)	rs140522266
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.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.477_478insCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGAC (p.Ile160delinsHisProArgGlySerAlaAlaAlaArgAspArgGlyAlaArgSerAlaThrGlnLysThrSerTer)
NM_015506.3(MMACHC):c.478_481del (p.Ile160fs)	rs2149323826
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)	rs370596113
NM_015506.3(MMACHC):c.484G>T (p.Gly162Trp)
NM_015506.3(MMACHC):c.48_49del (p.Cys17fs)	rs765960386
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)	rs1481893137
NM_015506.3(MMACHC):c.500del (p.Pro167fs)	rs1553162918
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.534del (p.Lys178fs)	rs2149323872
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)	rs1305170860
NM_015506.3(MMACHC):c.551_554dup (p.Arg186fs)	rs1553162934
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.578T>C (p.Leu193Pro)	rs1233135084
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.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.82-2A>G
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)

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