ClinVar Miner

List of variants reported as benign for Methylmalonic aciduria and homocystinuria type cblF by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018368.4(LMBRD1):c.*341C>T rs9185 0.56654
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648 0.32715
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_018368.4(LMBRD1):c.*395T>C rs80330045 0.00583
NM_018368.4(LMBRD1):c.-18T>A rs202192515 0.00384
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795 0.00341
NM_018368.4(LMBRD1):c.981-11A>T rs75847296 0.00092
NM_018368.4(LMBRD1):c.-117C>T rs550933505 0.00005

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