ClinVar Miner

List of variants in gene MCCC2 reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
NM_022132.5(MCCC2):c.*1080G>T rs7727902
NM_022132.5(MCCC2):c.*1144A>G rs886060747
NM_022132.5(MCCC2):c.*1354C>T rs538509005
NM_022132.5(MCCC2):c.*1381A>C rs115650149
NM_022132.5(MCCC2):c.*245T>C rs11551918
NM_022132.5(MCCC2):c.*260T>A rs886060739
NM_022132.5(MCCC2):c.*368T>C rs769233664
NM_022132.5(MCCC2):c.*526C>T rs181669670
NM_022132.5(MCCC2):c.*565C>A rs565365607
NM_022132.5(MCCC2):c.*577T>A rs150412501
NM_022132.5(MCCC2):c.*659C>T rs886060740
NM_022132.5(MCCC2):c.*699T>C rs886060741
NM_022132.5(MCCC2):c.*719del rs886060742
NM_022132.5(MCCC2):c.*725C>T rs370508668
NM_022132.5(MCCC2):c.*819G>A rs565662004
NM_022132.5(MCCC2):c.*839T>C rs886060743
NM_022132.5(MCCC2):c.*856C>T rs886060744
NM_022132.5(MCCC2):c.*878T>G rs886060745
NM_022132.5(MCCC2):c.*940C>G rs886060746
NM_022132.5(MCCC2):c.-38G>A rs186132078
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala)
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val) rs766591766
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr)
NM_022132.5(MCCC2):c.129G>A (p.Gln43=)
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs) rs1561848250
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro) rs1554138549
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln)
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val) rs778172446
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys) rs119103219
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser)
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp) rs1402663229
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys)
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln)
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys) rs368906147
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val)
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys) rs753735697
NM_022132.5(MCCC2):c.675C>A (p.Ala225=) rs781610298
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg) rs781559418
NM_022132.5(MCCC2):c.72C>G (p.His24Gln) rs374686220
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp) rs1487531101

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.