List of variants in gene LMBRD1 reported as pathogenic for classic organic aciduria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)	rs749272546	0.00062
NM_018368.4(LMBRD1):c.1339-1G>T	rs768709895	0.00002
NM_018368.4(LMBRD1):c.1156C>T (p.Arg386Ter)	rs1380343985	0.00001
NM_018368.4(LMBRD1):c.376A>T (p.Lys126Ter)	rs1170149970	0.00001
NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)	rs35350789	0.00001
NC_000006.11:g.(?_70459213)_(70462268_?)del
NC_000006.12:g.69697707_69697708insTATCAGATTATCAGAAGTTATATTAGTCTGAAAGATAAAAATACAGTTAAAATATAAAAACCGCATTAATAAATACATTTGGATTTAAAAAGT
NC_000006.12:g.69780555del	rs2481466497
NM_018368.4(LMBRD1):c.1094_1095del (p.Leu365fs)	rs2149844541
NM_018368.4(LMBRD1):c.1172G>A (p.Trp391Ter)	rs2482221144
NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)	rs867010959
NM_018368.4(LMBRD1):c.1321C>T (p.Gln441Ter)	rs773154173
NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)	rs561314652
NM_018368.4(LMBRD1):c.229C>T (p.Gln77Ter)	rs2481485775
NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)	rs2481411360
NM_018368.4(LMBRD1):c.358del (p.Tyr120fs)	rs768207964
NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)	rs1765174711
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)	rs1562112648
NM_018368.4(LMBRD1):c.404del (p.Thr135fs)	rs1562112641
NM_018368.4(LMBRD1):c.481_484del (p.Val161fs)	rs1767111402
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)	rs779151199
NM_018368.4(LMBRD1):c.528del (p.Lys176_Val177insTer)	rs2481385860
NM_018368.4(LMBRD1):c.614del (p.Met205fs)	rs2481377410
NM_018368.4(LMBRD1):c.690del (p.Ala231fs)
NM_018368.4(LMBRD1):c.741_742del (p.Ile248fs)	rs1766552940
NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)	rs779142724
NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)	rs141038315
NM_018368.4(LMBRD1):c.848_851del (p.Glu283fs)	rs2481327951
NM_018368.4(LMBRD1):c.916-1G>T
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)	rs771477094

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