ClinVar Miner

List of variants reported for Methylmalonic aciduria and homocystinuria type cblF by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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.1056del (p.Asn353fs) rs749272546 0.00062
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser) rs2149843427

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