ClinVar Miner

List of variants in gene LMBRD1 reported as uncertain significance for Disorders of Intracellular Cobalamin Metabolism

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_018368.3(LMBRD1):c.-276A>G rs148064952 0.00387
NM_018368.3(LMBRD1):c.-181C>A rs545021503 0.00137
NM_018368.3(LMBRD1):c.-274A>G rs750906374 0.00029
NM_018368.4(LMBRD1):c.498C>T (p.Pro166=) rs886061691 0.00001
NM_018368.4(LMBRD1):c.1084-4del rs757172535

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