ClinVar Miner

List of variants reported as pathogenic for Methylmalonic aciduria and homocystinuria type cblF by Invitae

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546 0.00062
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter) rs1380343985 0.00001
NC_000006.11:g.(?_70386050)_(71012627_?)del
NC_000006.11:g.(?_70459213)_(70462268_?)del
NC_000006.12:g.69780555del
NM_018368.4(LMBRD1):c.1172G>A (p.Trp391Ter)
NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)
NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)
NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)
NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)
NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)
NM_018368.4(LMBRD1):c.358del (p.Tyr120fs)
NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)
NM_018368.4(LMBRD1):c.376A>T (p.Lys126Ter)
NM_018368.4(LMBRD1):c.399del (p.Lys133fs) rs1562112648
NM_018368.4(LMBRD1):c.481_484del (p.Val161fs)
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_018368.4(LMBRD1):c.528del (p.Lys176_Val177insTer)
NM_018368.4(LMBRD1):c.614del (p.Met205fs)
NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)
NM_018368.4(LMBRD1):c.741_742del (p.Ile248fs)
NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)
NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)
NM_018368.4(LMBRD1):c.848_851del (p.Glu283fs)
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs) rs771477094

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