ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_018368.4(LMBRD1):c.-103A>G rs369575833 0.00049
NM_018368.4(LMBRD1):c.430A>G (p.Thr144Ala) rs12214456 0.00017
NM_018368.4(LMBRD1):c.*166A>G rs960902863 0.00015
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=) rs143642515 0.00015
NM_018368.4(LMBRD1):c.*125A>G rs886061689 0.00013
NM_018368.4(LMBRD1):c.*384A>C rs536469891 0.00010
NM_018368.4(LMBRD1):c.*26A>G rs758279877 0.00009
NM_018368.4(LMBRD1):c.802G>A (p.Ala268Thr) rs143758103 0.00008
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala) rs138023744 0.00006
NM_018368.4(LMBRD1):c.562C>T (p.His188Tyr) rs554554993 0.00006
NM_018368.4(LMBRD1):c.1501T>C (p.Phe501Leu) rs776133587 0.00004
NM_018368.4(LMBRD1):c.417G>A (p.Thr139=) rs934259733 0.00003
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=) rs757392138 0.00002
NM_018368.4(LMBRD1):c.115C>T (p.Arg39Trp) rs748879055 0.00001
NM_018368.4(LMBRD1):c.116G>A (p.Arg39Gln) rs886061692 0.00001
NM_018368.4(LMBRD1):c.1347A>G (p.Ile449Met) rs771561971 0.00001
NM_018368.4(LMBRD1):c.41G>C (p.Gly14Ala) rs201773048 0.00001
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=) rs747318789 0.00001
NM_018368.4(LMBRD1):c.*220G>T rs1765534415
NM_018368.4(LMBRD1):c.*77G>T rs886061690
NM_018368.4(LMBRD1):c.-57T>C rs886061693
NM_018368.4(LMBRD1):c.100C>G (p.Arg34Gly) rs773844453
NM_018368.4(LMBRD1):c.160C>G (p.Leu54Val) rs1402538766
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=) rs534280770
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=) rs1387756161
NM_018368.4(LMBRD1):c.981-14G>T rs1324981458

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