ClinVar Miner

List of variants in gene UBA1 reported by CeGaT Center for Human Genetics Tuebingen

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_003334.4(UBA1):c.1137C>T (p.Asp379=) rs143935711 0.00045
NM_003334.4(UBA1):c.1242C>T (p.Ser414=) rs369843264 0.00035
NM_003334.4(UBA1):c.1296C>T (p.Leu432=) rs147825775 0.00023
NM_003334.4(UBA1):c.1482C>T (p.Cys494=) rs782484295 0.00010
NM_003334.4(UBA1):c.798G>A (p.Glu266=) rs202041421 0.00005
NM_003334.4(UBA1):c.1150C>T (p.Arg384Trp) rs148642741 0.00004
NM_003334.4(UBA1):c.423T>C (p.Tyr141=) rs782435953 0.00004
NM_003334.4(UBA1):c.2982G>T (p.Val994=) rs782156608 0.00003
NM_003334.4(UBA1):c.1117G>A (p.Val373Met) rs782354395 0.00002
NM_003334.4(UBA1):c.1420-8C>T rs782038176 0.00002
NM_003334.4(UBA1):c.1758C>T (p.Arg586=) rs782655127 0.00001
NM_003334.4(UBA1):c.2412C>T (p.Gly804=) rs201456998 0.00001
NM_003334.4(UBA1):c.1-2333G>A
NM_003334.4(UBA1):c.1349G>A (p.Arg450His)
NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)
NM_003334.4(UBA1):c.1858T>C (p.Ser620Pro)
NM_003334.4(UBA1):c.1939-283G>C
NM_003334.4(UBA1):c.1950T>A (p.Asp650Glu)
NM_003334.4(UBA1):c.2156C>T (p.Ser719Leu)
NM_003334.4(UBA1):c.2276C>G (p.Pro759Arg)
NM_003334.4(UBA1):c.2765A>T (p.Tyr922Phe)
NM_003334.4(UBA1):c.2823C>T (p.Ala941=)
NM_003334.4(UBA1):c.3048A>C (p.Thr1016=)
NM_003334.4(UBA1):c.3065T>C (p.Val1022Ala)
NM_003334.4(UBA1):c.3099G>A (p.Ala1033=)
NM_003334.4(UBA1):c.347T>G (p.Phe116Cys)

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.