List of variants in gene MMACHC reported by CeGaT Center for Human Genetics Tuebingen

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: 9

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HGVS	dbSNP	gnomAD frequency
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.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe)	rs201898615	0.00038
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)	rs776623221	0.00011
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	rs757325789	0.00002
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys)	rs1002571805
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)	rs751017212

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