ClinVar Miner

List of variants reported as uncertain significance for Vitamin B12-responsive methylmalonic acidemia type cblB by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NM_052845.4(MMAB):c.*1067C>T rs143292900
NM_052845.4(MMAB):c.*1088A>T rs142486697
NM_052845.4(MMAB):c.*1121C>T rs562046988
NM_052845.4(MMAB):c.*1400G>A
NM_052845.4(MMAB):c.*1428C>T rs757325398
NM_052845.4(MMAB):c.*1482C>T
NM_052845.4(MMAB):c.*1683G>A rs572832766
NM_052845.4(MMAB):c.*1685G>A rs117011771
NM_052845.4(MMAB):c.*1689C>T
NM_052845.4(MMAB):c.*1747A>G rs886048917
NM_052845.4(MMAB):c.*1988C>T
NM_052845.4(MMAB):c.*2023C>T rs546885397
NM_052845.4(MMAB):c.*2051C>T
NM_052845.4(MMAB):c.*2053C>T
NM_052845.4(MMAB):c.*2150A>G
NM_052845.4(MMAB):c.*2326C>G
NM_052845.4(MMAB):c.*2342G>A rs72650176
NM_052845.4(MMAB):c.*2392C>T
NM_052845.4(MMAB):c.*2503G>A rs886048916
NM_052845.4(MMAB):c.*2619A>T rs778528128
NM_052845.4(MMAB):c.*2636A>G rs748949434
NM_052845.4(MMAB):c.*2679G>C rs546327751
NM_052845.4(MMAB):c.*2736G>C
NM_052845.4(MMAB):c.*2739C>T
NM_052845.4(MMAB):c.*2740G>A rs139886832
NM_052845.4(MMAB):c.*2783G>A
NM_052845.4(MMAB):c.*2890C>T
NM_052845.4(MMAB):c.*2913C>T
NM_052845.4(MMAB):c.*2914G>A rs759971406
NM_052845.4(MMAB):c.*3019A>G rs78065254
NM_052845.4(MMAB):c.*301C>T
NM_052845.4(MMAB):c.*3027T>C
NM_052845.4(MMAB):c.*3043T>G
NM_052845.4(MMAB):c.*3074C>T
NM_052845.4(MMAB):c.*3142G>A
NM_052845.4(MMAB):c.*3152A>T rs886048915
NM_052845.4(MMAB):c.*3260G>A
NM_052845.4(MMAB):c.*3265A>G rs776804847
NM_052845.4(MMAB):c.*3295C>T
NM_052845.4(MMAB):c.*3296G>A
NM_052845.4(MMAB):c.*335G>A
NM_052845.4(MMAB):c.*348T>G
NM_052845.4(MMAB):c.*422T>C
NM_052845.4(MMAB):c.*424G>A
NM_052845.4(MMAB):c.*503G>A
NM_052845.4(MMAB):c.*509C>T rs886048923
NM_052845.4(MMAB):c.*554G>A rs562420933
NM_052845.4(MMAB):c.*588C>T
NM_052845.4(MMAB):c.*691A>C rs886048922
NM_052845.4(MMAB):c.*710C>T
NM_052845.4(MMAB):c.*716C>T rs886048921
NM_052845.4(MMAB):c.*815T>C rs776724872
NM_052845.4(MMAB):c.*961G>A rs541447661
NM_052845.4(MMAB):c.-11C>G
NM_052845.4(MMAB):c.-4G>C rs372195202
NM_052845.4(MMAB):c.150G>A (p.Ser50=) rs754357121
NM_052845.4(MMAB):c.158C>T (p.Pro53Leu)
NM_052845.4(MMAB):c.254C>T (p.Ala85Val)
NM_052845.4(MMAB):c.333C>T (p.Ala111=) rs769385276
NM_052845.4(MMAB):c.387G>A (p.Ala129=) rs549807022
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.542C>T (p.Ala181Val) rs764164596
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.584+15G>A rs750655720
NM_052845.4(MMAB):c.593C>T (p.Pro198Leu) rs886048927
NM_052845.4(MMAB):c.644+7G>A rs147637814
NM_052845.4(MMAB):c.654C>G (p.Asp218Glu)
NM_052845.4(MMAB):c.678T>C (p.Tyr226=) rs111678627
NM_052845.4(MMAB):c.68G>A (p.Gly23Asp)
NM_052845.4(MMAB):c.732G>A (p.Ser244=) rs186864802
NM_052845.4(MMAB):c.7G>A (p.Val3Met)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.