ClinVar Miner

List of variants in gene ATP2A1 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004320.6(ATP2A1):c.159G>A (p.Val53=) rs148925426 0.00125
NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met) rs138880727 0.00081
NM_004320.6(ATP2A1):c.1208G>A (p.Arg403Gln) rs149009015 0.00049
NM_004320.6(ATP2A1):c.2458C>A (p.Pro820Thr) rs149282970 0.00046
NM_004320.6(ATP2A1):c.128C>T (p.Ala43Val) rs150403167 0.00018
NM_004320.6(ATP2A1):c.1207C>T (p.Arg403Trp) rs117350233 0.00011
NM_004320.6(ATP2A1):c.1561G>A (p.Val521Ile) rs200092983 0.00011
NM_004320.6(ATP2A1):c.109G>A (p.Gly37Ser) rs200428113 0.00010
NM_004320.6(ATP2A1):c.1540G>C (p.Val514Leu) rs769174301 0.00010
NM_004320.6(ATP2A1):c.1586G>A (p.Arg529Gln) rs759078372 0.00006
NM_004320.6(ATP2A1):c.1780G>A (p.Val594Met) rs142091964 0.00006
NM_004320.6(ATP2A1):c.2777C>G (p.Pro926Arg) rs528721981 0.00006
NM_004320.6(ATP2A1):c.521G>A (p.Arg174Gln) rs149506518 0.00006
NM_004320.6(ATP2A1):c.1913G>A (p.Arg638Gln) rs763141204 0.00004
NM_004320.6(ATP2A1):c.1706C>T (p.Thr569Ile) rs756738795 0.00003
NM_004320.6(ATP2A1):c.580G>A (p.Val194Ile) rs201515814 0.00003
NM_004320.6(ATP2A1):c.1418C>T (p.Ser473Leu) rs41292392 0.00002
NM_004320.6(ATP2A1):c.2343G>A (p.Leu781=) rs886051883 0.00002
NM_004320.6(ATP2A1):c.2710C>G (p.Leu904Val) rs772242880 0.00002
NM_004320.6(ATP2A1):c.871G>A (p.Gly291Arg) rs761201498 0.00002
NM_004320.6(ATP2A1):c.1287G>A (p.Glu429=) rs200596448 0.00001
NM_004320.6(ATP2A1):c.1756G>A (p.Glu586Lys) rs757955149 0.00001
NM_004320.6(ATP2A1):c.2230G>A (p.Val744Ile) rs866421756 0.00001
NM_004320.6(ATP2A1):c.2435C>T (p.Pro812Leu) rs369691735 0.00001
NM_004320.6(ATP2A1):c.245A>G (p.Glu82Gly) rs764640218 0.00001
NM_004320.6(ATP2A1):c.2518A>G (p.Ile840Val) rs750155383 0.00001
NM_004320.6(ATP2A1):c.2560T>C (p.Trp854Arg) rs780556969 0.00001
NM_004320.6(ATP2A1):c.2588C>G (p.Pro863Arg) rs1057518274 0.00001
NM_004320.6(ATP2A1):c.2644C>T (p.His882Tyr) rs756859416 0.00001
NM_004320.6(ATP2A1):c.2776C>T (p.Pro926Ser) rs769822529 0.00001
NM_004320.6(ATP2A1):c.2836C>G (p.Leu946Val) rs762199691 0.00001
NM_004320.6(ATP2A1):c.2862G>A (p.Pro954=) rs751717647 0.00001
NM_004320.6(ATP2A1):c.640A>G (p.Ile214Val) rs770199753 0.00001
NM_004320.6(ATP2A1):c.997G>A (p.Val333Ile) rs763825500 0.00001
NM_004320.6(ATP2A1):c.1156G>A (p.Gly386Ser) rs1184952683
NM_004320.6(ATP2A1):c.118+2dup rs1555514443
NM_004320.6(ATP2A1):c.1546-6T>A rs1555516687
NM_004320.6(ATP2A1):c.1790T>C (p.Val597Ala)
NM_004320.6(ATP2A1):c.1815G>C (p.Lys605Asn) rs1057522782
NM_004320.6(ATP2A1):c.2032C>T (p.Arg678Cys)
NM_004320.6(ATP2A1):c.2261ACA[2] (p.Asn756del)
NM_004320.6(ATP2A1):c.2515G>A (p.Ala839Thr) rs1237846976
NM_004320.6(ATP2A1):c.272C>T (p.Pro91Leu) rs1057522931
NM_004320.6(ATP2A1):c.422A>G (p.Lys141Arg) rs1057524640
NM_004320.6(ATP2A1):c.691G>A (p.Glu231Lys) rs778514898
NM_004320.6(ATP2A1):c.766T>G (p.Phe256Val) rs2152203938
NM_004320.6(ATP2A1):c.840C>A (p.Asn280Lys) rs145160426

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.