ClinVar Miner

List of variants in gene MCCC1 reported as benign for classic organic aciduria

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.1978-57G>T rs6786878 0.93515
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_020166.5(MCCC1):c.369+96C>T rs6806083 0.54906
NM_020166.5(MCCC1):c.1594+39T>C rs2270969 0.06776
NM_020166.5(MCCC1):c.1681+77C>T rs75187429 0.06766
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01175
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00748
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839 0.00458
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712 0.00445
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00118
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707 0.00048
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00032
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318 0.00032
NM_020166.5(MCCC1):c.1268-19C>T rs551338947 0.00009
NM_020166.5(MCCC1):c.1083+15dup rs377092260
NM_020166.5(MCCC1):c.1378-17del rs1246608035
NM_020166.5(MCCC1):c.1682-17dup rs1712554710
NM_020166.5(MCCC1):c.1732-13del rs770181345
NM_020166.5(MCCC1):c.1732-208T>C rs2108441955
NM_020166.5(MCCC1):c.1732-4dup rs1252683350
NM_020166.5(MCCC1):c.1978-86A>C rs2292056
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_020166.5(MCCC1):c.874-6del rs755494348
NM_020166.5(MCCC1):c.874-6dup rs755494348
NM_020166.5(MCCC1):c.956-10dup rs747546545

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.