List of variants in gene MMACHC reported as benign for homocystinuria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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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.276+17T>A	rs115028762	0.00201
NM_015506.3(MMACHC):c.495G>A (p.Leu165=)	rs761111018	0.00003
NM_015506.3(MMACHC):c.429+13del
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)	rs564280688
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu)	rs201025783

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