ClinVar Miner

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

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Total variants: 6
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LMBRD1, 1-BP DEL, 1056G
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)

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