ClinVar Miner

List of variants in gene LMBRD1 studied for classic organic aciduria

Included ClinVar conditions (39):
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Total variants: 19
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HGVS dbSNP
LMBRD1, 1-BP DEL, 1056G
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=) rs765215874
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser)
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971
NM_018368.4(LMBRD1):c.1407T>A (p.Asp469Glu) rs12648
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
NM_018368.4(LMBRD1):c.291A>G (p.Val97=) rs752864942
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg)
NM_018368.4(LMBRD1):c.404del (p.Thr135fs) rs1562112641
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=) rs138374055
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe)
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr)
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) rs771226867
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His)
NM_018368.4(LMBRD1):c.981-10dup rs202207965

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