ClinVar Miner

List of variants in gene ATP1A3 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=) rs45606534 0.00759
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_152296.5(ATP1A3):c.2976C>T (p.Asp992=) rs146199765 0.00177
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_152296.5(ATP1A3):c.*315G>A rs571857150 0.00073
NM_152296.5(ATP1A3):c.2653G>A (p.Val885Ile) rs149600313 0.00058
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_152296.5(ATP1A3):c.994-3C>G rs377256877 0.00046
NM_152296.5(ATP1A3):c.1695C>T (p.Asp565=) rs375255226 0.00021
NM_152296.5(ATP1A3):c.2419-7C>T rs187436315 0.00016
NM_152296.5(ATP1A3):c.1500C>T (p.Ala500=) rs146606627 0.00013
NM_152296.5(ATP1A3):c.147T>C (p.Cys49=) rs376960579 0.00011
NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=) rs146600566 0.00011
NM_152296.5(ATP1A3):c.288C>T (p.Ile96=) rs142806181 0.00011
NM_152296.5(ATP1A3):c.2489G>A (p.Arg830Gln) rs368371895 0.00010
NM_152296.5(ATP1A3):c.1968C>T (p.His656=) rs142297106 0.00009
NM_152296.5(ATP1A3):c.1086C>T (p.Thr362=) rs186453162 0.00007
NM_152296.5(ATP1A3):c.2886C>T (p.Pro962=) rs141412861 0.00006
NM_152296.5(ATP1A3):c.2325G>A (p.Pro775=) rs150943961 0.00005
NM_152296.5(ATP1A3):c.786C>T (p.Thr262=) rs74581050 0.00005
NM_152296.5(ATP1A3):c.1134C>T (p.Val378=) rs180710845 0.00004
NM_152296.5(ATP1A3):c.1821C>T (p.Thr607=) rs782381694 0.00004
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=) rs189555627 0.00004
NM_152296.5(ATP1A3):c.2004C>T (p.Ile668=) rs782209649 0.00003
NM_152296.5(ATP1A3):c.2419-6G>A rs180749411 0.00003
NM_152296.5(ATP1A3):c.1215G>A (p.Ser405=) rs374534881 0.00002
NM_152296.5(ATP1A3):c.1296G>T (p.Val432=) rs781928217 0.00002
NM_152296.5(ATP1A3):c.207A>T (p.Ala69=) rs200616931 0.00002
NM_152296.5(ATP1A3):c.2154C>T (p.Ala718=) rs782463652 0.00002
NM_152296.5(ATP1A3):c.2277C>T (p.Phe759=) rs782305663 0.00002
NM_152296.5(ATP1A3):c.2973C>T (p.Tyr991=) rs372919447 0.00002
NM_152296.5(ATP1A3):c.56G>A (p.Arg19His) rs782596240 0.00002
NM_152296.5(ATP1A3):c.6+644G>A rs1363862715 0.00002
NM_152296.5(ATP1A3):c.1164C>T (p.His388=) rs201446077 0.00001
NM_152296.5(ATP1A3):c.1206C>T (p.Asp402=) rs572012327 0.00001
NM_152296.5(ATP1A3):c.128G>A (p.Arg43Gln) rs782453913 0.00001
NM_152296.5(ATP1A3):c.1472A>G (p.Asn491Ser) rs782775696 0.00001
NM_152296.5(ATP1A3):c.153+7C>T rs782082118 0.00001
NM_152296.5(ATP1A3):c.1839G>A (p.Thr613=) rs376852509 0.00001
NM_152296.5(ATP1A3):c.219G>A (p.Pro73=) rs567997976 0.00001
NM_152296.5(ATP1A3):c.315C>T (p.Tyr105=) rs782717865 0.00001
NM_152296.5(ATP1A3):c.363C>T (p.Tyr121=) rs373180830 0.00001
NM_152296.5(ATP1A3):c.7-2A>C rs1555866356 0.00001
NM_152296.5(ATP1A3):c.7-43G>A rs782597250 0.00001
NM_152296.5(ATP1A3):c.750C>T (p.Ala250=) rs1555864916 0.00001
NM_152296.5(ATP1A3):c.1072G>C (p.Gly358Arg) rs606231432
NM_152296.5(ATP1A3):c.1303-5T>G rs782123500
NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=) rs34578730
NM_152296.5(ATP1A3):c.1359C>T (p.Ser453=) rs1555863345
NM_152296.5(ATP1A3):c.1381C>T (p.Arg461Cys)
NM_152296.5(ATP1A3):c.1449T>G (p.His483Gln)
NM_152296.5(ATP1A3):c.1503C>G (p.Pro501=)
NM_152296.5(ATP1A3):c.1620G>A (p.Glu540=) rs1599715899
NM_152296.5(ATP1A3):c.1630+1G>C
NM_152296.5(ATP1A3):c.1643A>G (p.Tyr548Cys) rs1555862164
NM_152296.5(ATP1A3):c.1652C>A (p.Pro551His) rs2145965138
NM_152296.5(ATP1A3):c.1709C>T (p.Thr570Met) rs2075193100
NM_152296.5(ATP1A3):c.1713C>A (p.Asp571Glu) rs1555862129
NM_152296.5(ATP1A3):c.1756C>T (p.Arg586Trp) rs1555862098
NM_152296.5(ATP1A3):c.1795G>A (p.Ala599Thr) rs1057519113
NM_152296.5(ATP1A3):c.1932G>A (p.Gln644=) rs1599715062
NM_152296.5(ATP1A3):c.1943G>A (p.Arg648Gln) rs2075189226
NM_152296.5(ATP1A3):c.2263G>T (p.Gly755Cys) rs557052809
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152296.5(ATP1A3):c.2323C>A (p.Pro775Thr) rs1555859593
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152296.5(ATP1A3):c.2543-6T>A rs1599705282
NM_152296.5(ATP1A3):c.2555C>G (p.Ala852Gly) rs2075080038
NM_152296.5(ATP1A3):c.2772G>C (p.Leu924=)
NM_152296.5(ATP1A3):c.2788C>T (p.Arg930Trp) rs1555859150
NM_152296.5(ATP1A3):c.3042A>C (p.Ter1014Cys)
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu) rs1599723609
NM_152296.5(ATP1A3):c.56G>C (p.Arg19Pro)
NM_152296.5(ATP1A3):c.666T>A (p.Thr222=) rs2217342
NM_152296.5(ATP1A3):c.7-4G>A rs375990668
NM_152296.5(ATP1A3):c.909C>G (p.Leu303=) rs782266448

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.