ClinVar Miner

List of variants in gene MMACHC reported as benign by Invitae

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Total variants: 8
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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.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.848G>T (p.Ter283Leu) rs201025783

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