ClinVar Miner

List of variants reported as likely benign for Methylmalonic acidemia by Illumina Laboratory Services, Illumina

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.*1107dup rs71777574 0.35787
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_052845.4(MMAB):c.*368T>A rs773284148 0.05387
NM_032601.4(MCEE):c.*120_*121del rs146624706 0.04337
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414 0.04206
NM_172250.3(MMAA):c.*4119del rs200143270 0.01489
NM_000431.3(MVK):c.-178A>G rs67606936 0.00444
NM_000255.4(MMUT):c.*201del rs10713340
NM_032601.3(MCEE):c.*300T>A rs72903551
NM_052845.4(MMAB):c.*1859TA[7] rs10623308
NM_052845.4(MMAB):c.*1859TA[9] rs10623308
NM_172250.3(MMAA):c.*1952dup rs150630369
NM_172250.3(MMAA):c.*2622_*2625del rs60186480
NM_172250.3(MMAA):c.*3274del rs33978754

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