ClinVar Miner

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

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Total variants: 42
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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

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