ClinVar Miner

List of variants in gene ATP2C1 reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378687.1(ATP2C1):c.2439A>G (p.Thr813=) rs576648874 0.00019
NM_001378687.1(ATP2C1):c.*176T>C rs752881753 0.00014
NM_001378687.1(ATP2C1):c.*1609A>C rs771461939 0.00011
NM_001378687.1(ATP2C1):c.593T>G (p.Val198Gly) rs764052498 0.00009
NM_001378687.1(ATP2C1):c.*1573G>A rs997233440 0.00008
NM_001378687.1(ATP2C1):c.2589G>A (p.Pro863=) rs751186032 0.00007
NM_001378687.1(ATP2C1):c.*1255G>A rs886057991 0.00006
NM_001378687.1(ATP2C1):c.2067C>T (p.Ile689=) rs148190902 0.00005
NM_001378687.1(ATP2C1):c.*127A>G rs767826698 0.00004
NM_001378687.1(ATP2C1):c.*1604T>C rs1259901914 0.00004
NM_001378687.1(ATP2C1):c.-90G>C rs1281629898 0.00003
NM_001378687.1(ATP2C1):c.*1214A>G rs886057990 0.00002
NM_001378687.1(ATP2C1):c.*856G>A rs1267244925 0.00002
NM_001378687.1(ATP2C1):c.*1203del rs886057988 0.00001
NM_001378687.1(ATP2C1):c.*1204A>T rs886057989 0.00001
NM_001378687.1(ATP2C1):c.*1264T>C rs886057992 0.00001
NM_001378687.1(ATP2C1):c.*609A>G rs1198664761 0.00001
NM_001378687.1(ATP2C1):c.*881A>G rs181188000 0.00001
NM_001378687.1(ATP2C1):c.*946T>G rs886057987 0.00001
NM_001378687.1(ATP2C1):c.-180-72G>A rs951311479 0.00001
NM_001378687.1(ATP2C1):c.-66C>T rs886057979 0.00001
NM_001378687.1(ATP2C1):c.1181A>G (p.His394Arg) rs1329817993 0.00001
NM_001378687.1(ATP2C1):c.532-6C>T rs886057981 0.00001
NM_001378687.1(ATP2C1):c.874C>G (p.Leu292Val) rs1349846001 0.00001
NM_001378687.1(ATP2C1):c.899+6T>C rs1430775611 0.00001
NM_001378687.1(ATP2C1):c.*1021G>C rs2062932036
NM_001378687.1(ATP2C1):c.*1471T>A rs878906207
NM_001378687.1(ATP2C1):c.*1564C>T rs886057993
NM_001378687.1(ATP2C1):c.*1786G>A rs2062970980
NM_001378687.1(ATP2C1):c.*322ATCT[1] rs886057984
NM_001378687.1(ATP2C1):c.*343T>A rs777719092
NM_001378687.1(ATP2C1):c.*581T>C rs1236440824
NM_001378687.1(ATP2C1):c.-180-57C>T rs115940289
NM_001378687.1(ATP2C1):c.-64A>G rs886057980
NM_001378687.1(ATP2C1):c.-80TC[1] rs886057978
NM_001378687.1(ATP2C1):c.1309-13T>C rs533035827
NM_001378687.1(ATP2C1):c.1571-11T>C rs2061653618
NM_001378687.1(ATP2C1):c.1905C>A (p.Asn635Lys) rs781604274
NM_001378687.1(ATP2C1):c.2106C>T (p.Phe702=) rs2062610077
NM_001378687.1(ATP2C1):c.2167A>G (p.Met723Val)
NM_001378687.1(ATP2C1):c.2557A>G (p.Met853Val) rs765124724
NM_001378687.1(ATP2C1):c.2694T>C (p.Val898=) rs886057983
NM_001378687.1(ATP2C1):c.41A>G (p.Asn14Ser) rs2059404554
NM_001378687.1(ATP2C1):c.694G>A (p.Val232Ile) rs1173877573
NM_001378687.1(ATP2C1):c.996G>A (p.Val332=) rs886057982

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.