List of variants in gene MMACHC reported as likely benign for Disorders of Intracellular Cobalamin Metabolism

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.*975C>G	rs551730972	0.00161
NM_015506.3(MMACHC):c.*1144A>T	rs181611783	0.00088
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)	rs761111018	0.00003
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)	rs74365027
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser)	rs201025783

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