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: 6

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HGVS	dbSNP
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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