ClinVar Miner

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

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_018368.4(LMBRD1):c.*125A>G rs886061689
NM_018368.4(LMBRD1):c.*166A>G
NM_018368.4(LMBRD1):c.*220G>T
NM_018368.4(LMBRD1):c.*26A>G
NM_018368.4(LMBRD1):c.*384A>C
NM_018368.4(LMBRD1):c.*77G>T rs886061690
NM_018368.4(LMBRD1):c.-103A>G rs369575833
NM_018368.4(LMBRD1):c.-57T>C rs886061693
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly) rs773844453
NM_018368.4(LMBRD1):c.1130T>C (p.Phe377Ser) rs73477459
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) rs748879055
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln) rs886061692
NM_018368.4(LMBRD1):c.1199T>C (p.Ile400Thr)
NM_018368.4(LMBRD1):c.1214C>G (p.Thr405Ser) rs561265847
NM_018368.4(LMBRD1):c.1217G>A (p.Arg406Lys)
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu)
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu) rs980145400
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val)
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
NM_018368.4(LMBRD1):c.187C>G (p.Leu63Val)
NM_018368.4(LMBRD1):c.368A>G (p.Tyr123Cys)
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515
NM_018368.4(LMBRD1):c.400T>C (p.Cys134Arg) rs1582124917
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=)
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala)
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr)
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
NM_018368.4(LMBRD1):c.596C>T (p.Ser199Phe) rs1562105981
NM_018368.4(LMBRD1):c.688G>A (p.Ala230Thr) rs376081191
NM_018368.4(LMBRD1):c.694T>A (p.Tyr232Asn)
NM_018368.4(LMBRD1):c.73A>G (p.Ile25Val)
NM_018368.4(LMBRD1):c.796A>G (p.Lys266Glu) rs771226867
NM_018368.4(LMBRD1):c.7A>G (p.Thr3Ala)
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103
NM_018368.4(LMBRD1):c.830G>A (p.Arg277Gln)
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg) rs1582168492
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138
NM_018368.4(LMBRD1):c.905G>A (p.Arg302His) rs142962811
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)
NM_018368.4(LMBRD1):c.981-14G>T

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