List of variants in gene MMACHC reported by OMIM

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
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.276G>T (p.Glu92Asp)	rs556977618	0.00002
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)	rs756980496
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)	rs556977618
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	rs121918240
NM_015506.3(MMACHC):c.464G>A (p.Gly155Glu)	rs606231425
NM_015506.3(MMACHC):c.81G>A (p.Gln27=)	rs1553162317

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