ClinVar Miner

List of variants in gene ATP1A2 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.3014T>C (p.Ile1005Thr) rs369228503 0.00006
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945 0.00005
NM_000702.4(ATP1A2):c.1478G>A (p.Arg493Gln) rs773318002 0.00002
NM_000702.4(ATP1A2):c.1496G>A (p.Ser499Asn) rs767230468 0.00002
NM_000702.4(ATP1A2):c.1700A>G (p.Lys567Arg) rs374724827 0.00002
NM_000702.4(ATP1A2):c.892G>C (p.Val298Leu) rs757867108 0.00002
NM_000702.4(ATP1A2):c.1043G>A (p.Arg348His) rs912419331 0.00001
NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys) rs779985796 0.00001
NM_000702.4(ATP1A2):c.1528C>T (p.Arg510Cys) rs750109401 0.00001
NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp) rs762330744 0.00001
NM_000702.4(ATP1A2):c.192G>T (p.Gln64His) rs796052282 0.00001
NM_000702.4(ATP1A2):c.19C>T (p.Arg7Cys) rs761260548 0.00001
NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser) rs200425518 0.00001
NM_000702.4(ATP1A2):c.2266G>A (p.Val756Ile) rs777895941 0.00001
NM_000702.4(ATP1A2):c.248C>T (p.Thr83Ile) rs763362150 0.00001
NM_000702.4(ATP1A2):c.916G>A (p.Val306Met) rs748881406 0.00001
NM_000702.4(ATP1A2):c.1148G>T (p.Arg383Leu)
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met) rs768088341
NM_000702.4(ATP1A2):c.1541G>T (p.Arg514Leu) rs748654627
NM_000702.4(ATP1A2):c.163G>T (p.Val55Leu)
NM_000702.4(ATP1A2):c.1737G>T (p.Lys579Asn)
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000702.4(ATP1A2):c.1798G>A (p.Val600Met)
NM_000702.4(ATP1A2):c.1963A>G (p.Arg655Gly)
NM_000702.4(ATP1A2):c.2008A>G (p.Met670Val) rs1184210055
NM_000702.4(ATP1A2):c.2131G>A (p.Val711Met) rs1282248061
NM_000702.4(ATP1A2):c.2439+5G>A rs1651923862
NM_000702.4(ATP1A2):c.2662G>T (p.Asp888Tyr)
NM_000702.4(ATP1A2):c.2750C>T (p.Thr917Met)
NM_000702.4(ATP1A2):c.2774T>C (p.Val925Ala) rs1651973840
NM_000702.4(ATP1A2):c.2879C>T (p.Ala960Val)
NM_000702.4(ATP1A2):c.2890T>C (p.Phe964Leu) rs1652071501
NM_000702.4(ATP1A2):c.2926C>A (p.Arg976Ser) rs371742379
NM_000702.4(ATP1A2):c.2944G>C (p.Val982Leu)
NM_000702.4(ATP1A2):c.3004C>G (p.Arg1002Gly)
NM_000702.4(ATP1A2):c.376G>A (p.Asp126Asn)
NM_000702.4(ATP1A2):c.433T>C (p.Ser145Pro) rs2101985906
NM_000702.4(ATP1A2):c.475T>A (p.Phe159Ile)
NM_000702.4(ATP1A2):c.847G>A (p.Ala283Thr)
NM_000702.4(ATP1A2):c.904G>A (p.Val302Ile)

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.