ClinVar Miner

List of variants studied for Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser) rs56379718 0.00681
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_022089.4(ATP13A2):c.1195+9C>T rs117758987 0.00227
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_022089.4(ATP13A2):c.3235+20C>T rs376475762 0.00044
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) rs201610681 0.00014
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_022089.4(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077 0.00010
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu) rs372995036 0.00009
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) rs147277743 0.00008
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.2529+9G>A rs200809857 0.00006
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793 0.00006
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_022089.4(ATP13A2):c.*155C>T rs762111359 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile) rs1401431520 0.00004
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His) rs533548757 0.00004
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) rs1033088325 0.00003
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=) rs575694238 0.00002
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln) rs772666861 0.00002
NM_022089.4(ATP13A2):c.-99G>C rs569658051 0.00001
NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro) rs376004873 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980 0.00001
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter) rs1264582344 0.00001
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn) rs750921184 0.00001
NM_022089.4(ATP13A2):c.2529+1G>A rs776448394 0.00001
NM_022089.4(ATP13A2):c.-171G>C rs1350517492
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=) rs544545629
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met) rs148721722
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter) rs1057519289

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.