ClinVar Miner

List of variants reported as uncertain significance for Cobalamin C disease by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln)	rs765822392	0.00002
NM_015506.3(MMACHC):c.848del (p.Ter283TyrextTer?)	rs1553163024	0.00001

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