ClinVar Miner

List of variants reported as pathogenic for METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE

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Total variants: 4
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LMBRD1, 1-BP DEL, 1056G
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199

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