ClinVar Miner

List of variants reported as benign for Vitamin B12-responsive methylmalonic acidemia type cblB by Invitae

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Total variants: 12
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HGVS dbSNP
NM_052845.3(MMAB):c.-180C>T rs66486014
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744
NM_052845.4(MMAB):c.288T>C (p.Ile96=) rs62000414
NM_052845.4(MMAB):c.349-17T>C rs72650187
NM_052845.4(MMAB):c.349-8dup rs759049347
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.624C>T (p.Asn208=) rs146687452
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593

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