ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 7 by Paris Brain Institute, Inserm - ICM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460 0.00003
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter) rs138671904 0.00001
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079 0.00001
NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter) rs1482442290 0.00001
NM_003119.4(SPG7):c.1552+2dup rs1567928509 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523 0.00001
NM_003119.4(SPG7):c.775_781dup (p.Thr261fs) rs780810116 0.00001
NC_000016.9:g.(89579446_89590413)_(89611181_89613065)del
NC_000016.9:g.(89592877_89595884)_(89599045_89611055)del
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1162_1177dup (p.Leu393fs) rs2152403759
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala) rs2058357964
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.1471C>T (p.Gln491Ter) rs1179556029
NM_003119.4(SPG7):c.1528_1529delinsTT (p.Ala510Leu) rs2152409901
NM_003119.4(SPG7):c.1535T>C (p.Leu512Pro) rs2058569546
NM_003119.4(SPG7):c.1603G>T (p.Glu535Ter) rs2152410293
NM_003119.4(SPG7):c.1702_1706del (p.Gln568fs) rs2152411067
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met) rs778387199
NM_003119.4(SPG7):c.1777A>T (p.Lys593Ter) rs1463225651
NM_003119.4(SPG7):c.1960_1963del (p.Val654fs) rs2152412161
NM_003119.4(SPG7):c.2070del (p.Phe691fs) rs1555617559
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454
NM_003119.4(SPG7):c.39_63del (p.Gly14fs) rs2152392855
NM_003119.4(SPG7):c.473_474del (p.Leu158fs) rs879253798
NM_003119.4(SPG7):c.712A>T (p.Lys238Ter) rs2152400493
NM_003119.4(SPG7):c.759-11_759-8del rs758385553
NM_003119.4(SPG7):c.778_782delinsCCA (p.Met260fs) rs2152402048
NM_003119.4(SPG7):c.850_851delinsC (p.Phe284fs) rs768595656
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.87G>A (p.Trp29Ter) rs1597597437

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.