ClinVar Miner

List of variants reported as pathogenic for Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs) rs765632065 0.00007
NM_022089.4(ATP13A2):c.1903C>T (p.Gln635Ter) rs773246271 0.00003
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter) rs1303653650 0.00001
NM_022089.4(ATP13A2):c.2116C>T (p.Gln706Ter) rs2076949269 0.00001
NM_022089.4(ATP13A2):c.2455C>T (p.Arg819Ter) rs866035312 0.00001
NC_000001.10:g.(?_17316166)_(17332293_?)del
NC_000001.10:g.(?_17330807)_(17332293_?)del
NC_000001.11:g.(?_16991714)_(16992601_?)del
NM_022089.4(ATP13A2):c.1033_1034del (p.Leu345fs)
NM_022089.4(ATP13A2):c.1113del (p.His372fs) rs1377055875
NM_022089.4(ATP13A2):c.1296dup (p.Ser433fs)
NM_022089.4(ATP13A2):c.1306+5G>A rs786205056
NM_022089.4(ATP13A2):c.1378del (p.Arg460fs)
NM_022089.4(ATP13A2):c.1825G>T (p.Glu609Ter)
NM_022089.4(ATP13A2):c.1932del (p.Ala646fs)
NM_022089.4(ATP13A2):c.2113C>T (p.Gln705Ter)
NM_022089.4(ATP13A2):c.213G>A (p.Trp71Ter)
NM_022089.4(ATP13A2):c.2146del (p.Asp715_Leu716insTer) rs2100768788
NM_022089.4(ATP13A2):c.217del (p.Val73fs)
NM_022089.4(ATP13A2):c.217dup (p.Val73fs)
NM_022089.4(ATP13A2):c.2587del (p.Val863fs)
NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter) rs1557666781
NM_022089.4(ATP13A2):c.3153dup (p.Ser1052fs)
NM_022089.4(ATP13A2):c.3157_3158del (p.Leu1053fs) rs1570759415
NM_022089.4(ATP13A2):c.409del (p.Val137fs) rs2077487643
NM_022089.4(ATP13A2):c.533_536dup (p.Gln179fs)
NM_022089.4(ATP13A2):c.572dup (p.Arg192fs)
NM_022089.4(ATP13A2):c.604del (p.His202fs)
NM_022089.4(ATP13A2):c.619C>T (p.Gln207Ter) rs1483668823
NM_022089.4(ATP13A2):c.774G>A (p.Trp258Ter)
NM_022089.4(ATP13A2):c.965del (p.Gln322fs)

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.