ClinVar Miner

List of variants reported as uncertain significance for Methylmalonic aciduria and homocystinuria type cblF by Illumina Clinical Services Laboratory,Illumina

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Total variants: 26
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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.115C>T (p.Arg39Trp) rs748879055
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln) rs886061692
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.160C>G (p.Leu54Val)
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515
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.802G>A (p.Ala268Thr) rs143758103
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138
NM_018368.4(LMBRD1):c.981-14G>T

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