ClinVar Miner

List of variants in gene LMBRD1 reported as benign for Methylmalonic aciduria and homocystinuria type cblF

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Total variants: 14
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HGVS dbSNP
NM_018368.4(LMBRD1):c.*341C>T rs9185
NM_018368.4(LMBRD1):c.*395T>C rs80330045
NM_018368.4(LMBRD1):c.-117C>T rs550933505
NM_018368.4(LMBRD1):c.-18T>A rs202192515
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648
NM_018368.4(LMBRD1):c.1509+19C>T rs200824654
NM_018368.4(LMBRD1):c.1509+22G>A rs3214021
NM_018368.4(LMBRD1):c.18G>C (p.Ala6=) rs149650795
NM_018368.4(LMBRD1):c.562+18T>A rs183663902
NM_018368.4(LMBRD1):c.750G>A (p.Thr250=)
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883
NM_018368.4(LMBRD1):c.980+11T>C rs114726590
NM_018368.4(LMBRD1):c.981-10dup rs202207965
NM_018368.4(LMBRD1):c.981-11A>T rs75847296

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