ClinVar Miner

List of variants in gene MMACHC reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195 0.00006
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn) rs563710045 0.00001
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu) rs74365027
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783

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