ClinVar Miner

List of variants reported as benign for alternating hemiplegia of childhood 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.*2259T>A rs3747625 0.21913
NM_000702.4(ATP1A2):c.*1026A>G rs2070704 0.21697
NM_000702.4(ATP1A2):c.*1095T>A rs56199408 0.21686
NM_000702.4(ATP1A2):c.*1629T>C rs1046995 0.21680
NM_000702.4(ATP1A2):c.*746C>T rs62620182 0.21625
NM_000702.4(ATP1A2):c.*748C>T rs2070703 0.21623
NM_000702.4(ATP1A2):c.*589G>C rs2070702 0.20323
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_000702.4(ATP1A2):c.3034+14C>T rs41288127 0.13198
NM_000702.4(ATP1A2):c.*686G>A rs55843060 0.12407
NM_000702.4(ATP1A2):c.*1548C>T rs56003400 0.10471
NM_000702.4(ATP1A2):c.*1547G>T rs55845795 0.10469
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
NM_000702.4(ATP1A2):c.*1280G>A rs4656884 0.05514
NM_000702.4(ATP1A2):c.*621A>G rs12077973 0.03640
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_000702.4(ATP1A2):c.*253C>T rs78930771 0.03535
NM_000702.4(ATP1A2):c.*546G>A rs62621782 0.03531
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03344
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02789
NM_000702.4(ATP1A2):c.*682T>C rs60949592 0.02374
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02220
NM_000702.4(ATP1A2):c.*1780G>A rs74123255 0.02185
NM_000702.4(ATP1A2):c.*703G>A rs57902482 0.01488
NM_000702.4(ATP1A2):c.*1284C>T rs78507938 0.01486
NM_000702.4(ATP1A2):c.*72G>A rs2070701 0.00654
NM_000702.4(ATP1A2):c.*1781C>T rs116744472 0.00585
NM_000702.4(ATP1A2):c.-48C>G rs41265761 0.00414
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_000702.4(ATP1A2):c.*932T>C rs183455719 0.00347
NM_000702.4(ATP1A2):c.*1000T>G rs116194737 0.00242
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_000702.4(ATP1A2):c.2115+14C>T rs200854586 0.00168
NM_000702.4(ATP1A2):c.*1355C>T rs190096000 0.00166
NM_000702.4(ATP1A2):c.*1212G>C rs558677583 0.00126
NM_000702.4(ATP1A2):c.*86G>A rs368064571 0.00099
NM_000702.4(ATP1A2):c.*482A>C rs373029091 0.00097
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626 0.00081
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_000702.4(ATP1A2):c.*142A>G rs117680524 0.00026
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566 0.00019
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403 0.00019
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_000702.4(ATP1A2):c.*15G>A rs187737212 0.00007
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941 0.00004
NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys) rs747283283 0.00002
NM_000702.4(ATP1A2):c.1572G>A (p.Glu524=) rs775192056 0.00002
NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) rs143969080 0.00002
NM_000702.4(ATP1A2):c.2563+15G>A rs528454399 0.00001
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278 0.00001
NM_000702.4(ATP1A2):c.*1000T>A rs116194737
NM_000702.4(ATP1A2):c.*1211C>A rs62621216
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350

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.