ClinVar Miner

List of variants reported as uncertain significance for Hereditary spastic paraplegia 7 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 237
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser) rs199689138 0.00017
NM_003119.4(SPG7):c.782C>T (p.Thr261Met) rs370949294 0.00014
NM_003119.4(SPG7):c.80C>G (p.Pro27Arg) rs878854605 0.00013
NM_003119.4(SPG7):c.89G>A (p.Ser30Asn) rs863224215 0.00013
NM_003119.4(SPG7):c.76G>T (p.Gly26Cys) rs763721899 0.00011
NM_003119.4(SPG7):c.619C>T (p.Arg207Trp) rs199751531 0.00010
NM_003119.4(SPG7):c.161A>G (p.Glu54Gly) rs750617337 0.00009
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys) rs145776296 0.00009
NM_003119.4(SPG7):c.1049C>A (p.Pro350His) rs376254211 0.00008
NM_003119.4(SPG7):c.1213G>A (p.Val405Ile) rs115999025 0.00008
NM_003119.4(SPG7):c.1735G>A (p.Ala579Thr) rs763187694 0.00006
NM_003119.4(SPG7):c.331A>G (p.Lys111Glu) rs1239421989 0.00006
NM_003119.4(SPG7):c.1033G>A (p.Ala345Thr) rs368373840 0.00004
NM_003119.4(SPG7):c.1172G>A (p.Arg391Gln) rs778409451 0.00004
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp) rs748024868 0.00004
NM_003119.4(SPG7):c.1601G>A (p.Arg534Gln) rs757160836 0.00004
NM_003119.4(SPG7):c.1654G>A (p.Val552Ile) rs750306995 0.00004
NM_003119.4(SPG7):c.1752G>C (p.Met584Ile) rs753337774 0.00004
NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr) rs370852816 0.00004
NM_003119.4(SPG7):c.1966C>T (p.Arg656Cys) rs536084933 0.00004
NM_003119.4(SPG7):c.566G>A (p.Ser189Asn) rs762049799 0.00004
NM_003119.4(SPG7):c.578A>G (p.Glu193Gly) rs114191002 0.00004
NM_003119.4(SPG7):c.988-3C>T rs533584901 0.00004
NM_003119.4(SPG7):c.182A>G (p.Gln61Arg) rs1306012072 0.00003
NM_003119.4(SPG7):c.2191G>A (p.Ala731Thr) rs747521455 0.00003
NM_003119.4(SPG7):c.568G>A (p.Asp190Asn) rs765532928 0.00003
NM_003119.4(SPG7):c.878C>T (p.Ala293Val) rs201723702 0.00003
NM_003119.4(SPG7):c.1201G>A (p.Ala401Thr) rs776587961 0.00002
NM_003119.4(SPG7):c.1596G>A (p.Ala532=) rs752346853 0.00002
NM_003119.4(SPG7):c.1699G>A (p.Glu567Lys) rs577389704 0.00002
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp) rs764645740 0.00002
NM_003119.4(SPG7):c.185G>A (p.Ser62Asn) rs143294686 0.00002
NM_003119.4(SPG7):c.25C>T (p.Arg9Cys) rs1368314619 0.00002
NM_003119.4(SPG7):c.359C>T (p.Ala120Val) rs530877336 0.00002
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn) rs767820132 0.00002
NM_003119.4(SPG7):c.517G>A (p.Glu173Lys) rs577497147 0.00002
NM_003119.4(SPG7):c.1018A>G (p.Lys340Glu) rs375684876 0.00001
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) rs537421502 0.00001
NM_003119.4(SPG7):c.1055G>C (p.Gly352Ala) rs1567914095 0.00001
NM_003119.4(SPG7):c.1067C>T (p.Thr356Met) rs754903980 0.00001
NM_003119.4(SPG7):c.1073T>C (p.Leu358Pro) rs997293950 0.00001
NM_003119.4(SPG7):c.1079A>G (p.Lys360Arg) rs376803235 0.00001
NM_003119.4(SPG7):c.1115C>T (p.Ala372Val) rs776176403 0.00001
NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn) rs745459731 0.00001
NM_003119.4(SPG7):c.1199G>A (p.Arg400Gln) rs541757224 0.00001
NM_003119.4(SPG7):c.1234G>A (p.Ala412Thr) rs779792728 0.00001
NM_003119.4(SPG7):c.1256C>T (p.Thr419Ile) rs371504521 0.00001
NM_003119.4(SPG7):c.1378A>G (p.Ile460Val) rs748873540 0.00001
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079 0.00001
NM_003119.4(SPG7):c.1523G>A (p.Arg508His) rs201733920 0.00001
NM_003119.4(SPG7):c.1929C>A (p.Val643=) rs746082965 0.00001
NM_003119.4(SPG7):c.1959G>T (p.Lys653Asn) rs775569150 0.00001
NM_003119.4(SPG7):c.1967G>A (p.Arg656His) rs373143136 0.00001
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) rs752257333 0.00001
NM_003119.4(SPG7):c.2148G>C (p.Lys716Asn) rs776661222 0.00001
NM_003119.4(SPG7):c.2181G>A (p.Ala727=) rs753423781 0.00001
NM_003119.4(SPG7):c.2182C>G (p.Leu728Val) rs1433673841 0.00001
NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly) rs759329959 0.00001
NM_003119.4(SPG7):c.2293G>A (p.Asp765Asn) rs374941242 0.00001
NM_003119.4(SPG7):c.2323G>A (p.Glu775Lys) rs1293899912 0.00001
NM_003119.4(SPG7):c.32T>C (p.Leu11Pro) rs943187212 0.00001
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys) rs774326531 0.00001
NM_003119.4(SPG7):c.392G>A (p.Arg131His) rs985921704 0.00001
NM_003119.4(SPG7):c.40G>A (p.Gly14Ser) rs1242380690 0.00001
NM_003119.4(SPG7):c.416G>A (p.Arg139Gln) rs948625936 0.00001
NM_003119.4(SPG7):c.529A>G (p.Lys177Glu) rs1244544459 0.00001
NM_003119.4(SPG7):c.682G>A (p.Ala228Thr) rs375721189 0.00001
NM_003119.4(SPG7):c.703A>G (p.Ile235Val) rs191022979 0.00001
NM_003119.4(SPG7):c.767A>T (p.Tyr256Phe) rs773926412 0.00001
NM_003119.4(SPG7):c.861+5G>A rs757333854 0.00001
NM_003119.4(SPG7):c.898G>A (p.Gly300Arg) rs771060044 0.00001
NC_000016.10:g.(?_89508408)_(89532646_?)dup
NC_000016.9:g.(?_89574826)_(89583809_?)dup
NC_000016.9:g.(?_89574826)_(89623501_?)dup
NC_000016.9:g.(?_89579336)_(89579465_?)del
NC_000016.9:g.(?_89583809)_(89613188_?)dup
NM_003119.4(SPG7):c.100C>A (p.Pro34Thr)
NM_003119.4(SPG7):c.1012G>T (p.Gly338Cys)
NM_003119.4(SPG7):c.1013G>A (p.Gly338Asp)
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1048C>G (p.Pro350Ala) rs199789849
NM_003119.4(SPG7):c.1048C>T (p.Pro350Ser) rs199789849
NM_003119.4(SPG7):c.1064A>G (p.Lys355Arg)
NM_003119.4(SPG7):c.1085T>A (p.Val362Glu) rs532511374
NM_003119.4(SPG7):c.1085T>G (p.Val362Gly)
NM_003119.4(SPG7):c.1123G>A (p.Gly375Ser)
NM_003119.4(SPG7):c.1135G>A (p.Val379Met) rs766085257
NM_003119.4(SPG7):c.1193G>A (p.Arg398Gln) rs771782004
NM_003119.4(SPG7):c.1193G>T (p.Arg398Leu) rs771782004
NM_003119.4(SPG7):c.11T>C (p.Leu4Pro)
NM_003119.4(SPG7):c.1217A>G (p.Tyr406Cys)
NM_003119.4(SPG7):c.1219A>C (p.Ile407Leu)
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1241G>A (p.Gly414Asp)
NM_003119.4(SPG7):c.124C>T (p.Pro42Ser)
NM_003119.4(SPG7):c.1324+7G>A
NM_003119.4(SPG7):c.132G>A (p.Met44Ile)
NM_003119.4(SPG7):c.132G>T (p.Met44Ile)
NM_003119.4(SPG7):c.1358C>T (p.Ala453Val)
NM_003119.4(SPG7):c.1361C>T (p.Ser454Phe)
NM_003119.4(SPG7):c.1363A>C (p.Thr455Pro) rs2152409117
NM_003119.4(SPG7):c.1387G>A (p.Gly463Ser)
NM_003119.4(SPG7):c.1412T>C (p.Leu471Pro)
NM_003119.4(SPG7):c.1418G>A (p.Arg473Gln)
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr) rs1567926386
NM_003119.4(SPG7):c.1421A>C (p.His474Pro)
NM_003119.4(SPG7):c.1422C>G (p.His474Gln) rs201482100
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) rs376713807
NM_003119.4(SPG7):c.1449+6_1449+7del
NM_003119.4(SPG7):c.1456C>T (p.Arg486Trp)
NM_003119.4(SPG7):c.1460A>C (p.Glu487Ala)
NM_003119.4(SPG7):c.146C>T (p.Pro49Leu)
NM_003119.4(SPG7):c.1552+4C>T
NM_003119.4(SPG7):c.1555G>C (p.Ala519Pro) rs1423182372
NM_003119.4(SPG7):c.1563C>G (p.Ile521Met)
NM_003119.4(SPG7):c.1568A>T (p.Asn523Ile) rs974972989
NM_003119.4(SPG7):c.1595C>G (p.Ala532Gly)
NM_003119.4(SPG7):c.1595C>T (p.Ala532Val)
NM_003119.4(SPG7):c.1616C>G (p.Ser539Cys)
NM_003119.4(SPG7):c.161A>T (p.Glu54Val) rs750617337
NM_003119.4(SPG7):c.1622A>G (p.His541Arg)
NM_003119.4(SPG7):c.1642G>A (p.Ala548Thr)
NM_003119.4(SPG7):c.1645G>A (p.Val549Met)
NM_003119.4(SPG7):c.1651C>T (p.Arg551Cys)
NM_003119.4(SPG7):c.1652G>C (p.Arg551Pro)
NM_003119.4(SPG7):c.167G>A (p.Gly56Glu) rs11559074
NM_003119.4(SPG7):c.1686C>G (p.Ile562Met)
NM_003119.4(SPG7):c.1699G>C (p.Glu567Gln)
NM_003119.4(SPG7):c.1701A>T (p.Glu567Asp)
NM_003119.4(SPG7):c.1705A>C (p.Lys569Gln)
NM_003119.4(SPG7):c.1711G>T (p.Val571Phe)
NM_003119.4(SPG7):c.1712T>C (p.Val571Ala) rs2152411078
NM_003119.4(SPG7):c.1720C>T (p.His574Tyr) rs2058623878
NM_003119.4(SPG7):c.1740G>T (p.Leu580Phe) rs115658934
NM_003119.4(SPG7):c.1756G>C (p.Glu586Gln) rs1035143808
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met) rs778387199
NM_003119.4(SPG7):c.1769C>A (p.Ala590Asp)
NM_003119.4(SPG7):c.1779+5G>T rs1567931957
NM_003119.4(SPG7):c.1796G>T (p.Arg599Leu) rs149749852
NM_003119.4(SPG7):c.1797G>T (p.Arg599=)
NM_003119.4(SPG7):c.1844A>G (p.His615Arg) rs2152411864
NM_003119.4(SPG7):c.184A>C (p.Ser62Arg)
NM_003119.4(SPG7):c.1858G>C (p.Glu620Gln)
NM_003119.4(SPG7):c.1873C>T (p.Arg625Trp)
NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp) rs1350253332
NM_003119.4(SPG7):c.1898G>A (p.Arg633Gln)
NM_003119.4(SPG7):c.1907A>C (p.Glu636Ala)
NM_003119.4(SPG7):c.1927G>A (p.Val643Ile) rs778965259
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.1969A>G (p.Ile657Val)
NM_003119.4(SPG7):c.1991A>C (p.Gln664Pro)
NM_003119.4(SPG7):c.2021T>C (p.Ile674Thr) rs2152412186
NM_003119.4(SPG7):c.2027T>C (p.Phe676Ser) rs2058661946
NM_003119.4(SPG7):c.2059G>A (p.Gly687Arg)
NM_003119.4(SPG7):c.2059_2076del (p.Gly687_Ser692del) rs1597665192
NM_003119.4(SPG7):c.2066G>A (p.Arg689His) rs148199060
NM_003119.4(SPG7):c.2102A>G (p.His701Arg) rs372180825
NM_003119.4(SPG7):c.2123C>T (p.Ala708Val)
NM_003119.4(SPG7):c.2128G>A (p.Ala710Thr) rs2152412371
NM_003119.4(SPG7):c.2131T>G (p.Tyr711Asp) rs2058667749
NM_003119.4(SPG7):c.2143G>C (p.Glu715Gln)
NM_003119.4(SPG7):c.2149G>A (p.Val717Met)
NM_003119.4(SPG7):c.2197C>A (p.Leu733Met)
NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr)
NM_003119.4(SPG7):c.2248C>T (p.Pro750Ser)
NM_003119.4(SPG7):c.2252C>A (p.Pro751His)
NM_003119.4(SPG7):c.2272A>G (p.Ile758Val) rs1597668767
NM_003119.4(SPG7):c.2279C>T (p.Pro760Leu)
NM_003119.4(SPG7):c.2281C>T (p.Gln761Ter)
NM_003119.4(SPG7):c.2290A>G (p.Ile764Val) rs942740771
NM_003119.4(SPG7):c.2296G>A (p.Ala766Thr)
NM_003119.4(SPG7):c.2316C>G (p.Asp772Glu)
NM_003119.4(SPG7):c.2326G>T (p.Glu776Ter)
NM_003119.4(SPG7):c.232TTG[2] (p.Leu80del) rs527363502
NM_003119.4(SPG7):c.2365G>A (p.Glu789Lys) rs372033226
NM_003119.4(SPG7):c.2365G>C (p.Glu789Gln)
NM_003119.4(SPG7):c.2365G>T (p.Glu789Ter) rs372033226
NM_003119.4(SPG7):c.2372C>G (p.Pro791Arg)
NM_003119.4(SPG7):c.2387A>G (p.Ter796Trp)
NM_003119.4(SPG7):c.248A>G (p.His83Arg)
NM_003119.4(SPG7):c.270A>C (p.Arg90Ser)
NM_003119.4(SPG7):c.286+3A>G rs201056405
NM_003119.4(SPG7):c.28G>A (p.Ala10Thr)
NM_003119.4(SPG7):c.28G>T (p.Ala10Ser) rs577872969
NM_003119.4(SPG7):c.297C>G (p.Phe99Leu)
NM_003119.4(SPG7):c.347C>G (p.Ser116Trp)
NM_003119.4(SPG7):c.353G>A (p.Gly118Glu)
NM_003119.4(SPG7):c.355A>C (p.Lys119Gln)
NM_003119.4(SPG7):c.375A>C (p.Glu125Asp)
NM_003119.4(SPG7):c.389G>A (p.Arg130His)
NM_003119.4(SPG7):c.395A>C (p.Glu132Ala)
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser) rs377268309
NM_003119.4(SPG7):c.439G>A (p.Val147Ile)
NM_003119.4(SPG7):c.463C>A (p.Leu155Met)
NM_003119.4(SPG7):c.466_468dup (p.Asn156_Ala157insAsn)
NM_003119.4(SPG7):c.495T>G (p.Ile165Met)
NM_003119.4(SPG7):c.50C>G (p.Pro17Arg) rs956304326
NM_003119.4(SPG7):c.50C>T (p.Pro17Leu)
NM_003119.4(SPG7):c.52G>A (p.Gly18Ser)
NM_003119.4(SPG7):c.544C>T (p.Arg182Cys)
NM_003119.4(SPG7):c.560C>T (p.Pro187Leu) rs2152399546
NM_003119.4(SPG7):c.598G>A (p.Ala200Thr)
NM_003119.4(SPG7):c.618+14_618+36del
NM_003119.4(SPG7):c.619-3C>G rs199740629
NM_003119.4(SPG7):c.620G>A (p.Arg207Gln)
NM_003119.4(SPG7):c.696G>T (p.Glu232Asp)
NM_003119.4(SPG7):c.724C>A (p.Pro242Thr)
NM_003119.4(SPG7):c.730T>G (p.Ser244Ala)
NM_003119.4(SPG7):c.740G>A (p.Arg247Gln)
NM_003119.4(SPG7):c.758+4T>C rs2058261955
NM_003119.4(SPG7):c.759-11_759-8del rs758385553
NM_003119.4(SPG7):c.759-11del
NM_003119.4(SPG7):c.759-15T>G
NM_003119.4(SPG7):c.759-5G>A
NM_003119.4(SPG7):c.764T>A (p.Leu255Gln) rs2058311875
NM_003119.4(SPG7):c.80C>A (p.Pro27Gln)
NM_003119.4(SPG7):c.826G>A (p.Gly276Arg)
NM_003119.4(SPG7):c.829A>T (p.Met277Leu) rs909738481
NM_003119.4(SPG7):c.847G>A (p.Gly283Arg) rs2058313221
NM_003119.4(SPG7):c.861+6T>C rs765178985
NM_003119.4(SPG7):c.861T>C (p.Phe287=)
NM_003119.4(SPG7):c.90T>G (p.Ser30Arg)
NM_003119.4(SPG7):c.931G>A (p.Val311Met)
NM_003119.4(SPG7):c.942G>C (p.Met314Ile)
NM_003119.4(SPG7):c.943C>T (p.His315Tyr)
NM_003119.4(SPG7):c.946G>A (p.Glu316Lys)
NM_003119.4(SPG7):c.947A>G (p.Glu316Gly)
NM_003119.4(SPG7):c.950C>T (p.Ala317Val)
NM_003119.4(SPG7):c.964C>T (p.Arg322Cys) rs201096554
NM_003119.4(SPG7):c.967G>A (p.Glu323Lys)
NM_003119.4(SPG7):c.970T>C (p.Phe324Leu)
NM_003119.4(SPG7):c.983T>C (p.Leu328Pro) rs1555612612
NM_003119.4(SPG7):c.987+5A>C rs4785691
NM_003119.4(SPG7):c.988-17T>C
NM_003119.4(SPG7):c.99C>G (p.Phe33Leu) rs1331243813
NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup) rs781285980
NM_003119.4(SPG7):c.9GCT[8] (p.Leu8_Arg9insLeuLeuLeu)

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