ClinVar Miner

List of variants in gene ATP1A1 studied for Charcot-marie-tooth disease, axonal, type 2DD

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000701.8(ATP1A1):c.741C>A (p.Thr247=) rs12079419 0.12034
NM_000701.8(ATP1A1):c.637-17C>T rs12079355 0.11276
NM_000701.8(ATP1A1):c.3043+38T>C rs10924083 0.08938
NM_000701.8(ATP1A1):c.2952-37C>T rs12136995 0.08895
NM_000701.8(ATP1A1):c.3043+8T>C rs12139437 0.08884
NM_000701.8(ATP1A1):c.1024-64G>A rs41464748 0.07904
NM_000701.8(ATP1A1):c.1110G>A (p.Thr370=) rs11540956 0.07885
NM_000701.8(ATP1A1):c.3057G>A (p.Lys1019=) rs9567 0.04948
NM_000701.8(ATP1A1):c.2355C>T (p.Pro785=) rs144039896 0.00060
NM_000701.8(ATP1A1):c.1001A>G (p.Glu334Gly) rs2101045655
NM_000701.8(ATP1A1):c.1024-100T>G rs56016633
NM_000701.8(ATP1A1):c.1223-32G>A rs12130872
NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg) rs1553190285
NM_000701.8(ATP1A1):c.1645G>A (p.Gly549Arg) rs2101052251
NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr) rs1553192086
NM_000701.8(ATP1A1):c.1789G>A (p.Ala597Thr)
NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr) rs1553192091
NM_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala) rs1553192091
NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg) rs2101055022
NM_000701.8(ATP1A1):c.1974-14del rs77990511
NM_000701.8(ATP1A1):c.2432A>C (p.Asp811Ala) rs1553192783
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro) rs1653241392
NM_000701.8(ATP1A1):c.2809_2819del (p.Cys937fs) rs1653448255
NM_000701.8(ATP1A1):c.2957C>T (p.Thr986Ile) rs771215472
NM_000701.8(ATP1A1):c.3007G>A (p.Glu1003Lys)
NM_000701.8(ATP1A1):c.755-77A>T rs12134095
NM_000701.8(ATP1A1):c.8A>C (p.Lys3Thr) rs976510541

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.