ClinVar Miner

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

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.*1700A>G rs1044717 0.73398
NM_015506.3(MMACHC):c.*1260G>A rs882803 0.66049
NM_015506.3(MMACHC):c.*1376_*1377insT rs5773883 0.66038
NM_015506.3(MMACHC):c.*969C>G rs11580609 0.43704
NM_015506.3(MMACHC):c.*1585G>C rs7903 0.43401
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.*1362G>A rs12728919 0.10365
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.*269A>G rs35067820 0.01308
NM_015506.3(MMACHC):c.*310G>A rs146159774 0.00101
NM_015506.3(MMACHC):c.*413G>A rs12021717
NM_015506.3(MMACHC):c.*853CT[1] rs398052965

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