ClinVar Miner

List of variants in gene ATP2B3 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001001344.3(ATP2B3):c.214G>A (p.Ala72Thr) rs149114271 0.00052
NM_001001344.3(ATP2B3):c.1099C>T (p.Leu367=) rs150989590 0.00041
NM_001001344.3(ATP2B3):c.2105G>A (p.Arg702His) rs782587313 0.00003
NM_001001344.3(ATP2B3):c.2213G>A (p.Arg738Gln) rs781815591 0.00002
NM_001001344.3(ATP2B3):c.3342+4513G>A rs370155497 0.00002
NM_001001344.3(ATP2B3):c.1750A>G (p.Ser584Gly) rs782753613 0.00001
NM_001001344.3(ATP2B3):c.148G>A (p.Glu50Lys)
NM_001001344.3(ATP2B3):c.1686C>G (p.Arg562=) rs140240114
NM_001001344.3(ATP2B3):c.1773C>T (p.Asp591=)
NM_001001344.3(ATP2B3):c.1921G>A (p.Asp641Asn)
NM_001001344.3(ATP2B3):c.2107A>G (p.Met703Val)
NM_001001344.3(ATP2B3):c.2221C>T (p.Arg741Cys)
NM_001001344.3(ATP2B3):c.2252G>A (p.Arg751Gln)
NM_001001344.3(ATP2B3):c.2877G>A (p.Ala959=)
NM_001001344.3(ATP2B3):c.3279C>T (p.Ala1093=) rs2124514421
NM_001001344.3(ATP2B3):c.3342+4613C>A rs1194288881
NM_001001344.3(ATP2B3):c.3342+972C>T
NM_001001344.3(ATP2B3):c.3486G>C (p.Thr1162=)
NM_001001344.3(ATP2B3):c.3646G>C (p.Val1216Leu) rs1557022577
NM_001001344.3(ATP2B3):c.540G>A (p.Lys180=)
NM_001001344.3(ATP2B3):c.57G>C (p.Arg19=)
NM_001001344.3(ATP2B3):c.89C>G (p.Thr30Arg)

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.