ClinVar Miner

List of variants reported as likely benign for Hereditary spastic paraplegia 48 by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 258
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.366+5C>T rs143800095 0.00227
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593 0.00201
NM_014855.3(AP5Z1):c.1062C>T (p.His354=) rs192441133 0.00114
NM_014855.3(AP5Z1):c.558C>T (p.Tyr186=) rs371534878 0.00092
NM_014855.3(AP5Z1):c.999C>T (p.Asp333=) rs201196622 0.00079
NM_014855.3(AP5Z1):c.1773C>T (p.Tyr591=) rs372922535 0.00073
NM_014855.3(AP5Z1):c.1584C>T (p.Gly528=) rs377310579 0.00060
NM_014855.3(AP5Z1):c.849C>T (p.Ala283=) rs572271008 0.00060
NM_014855.3(AP5Z1):c.970-5C>T rs373671779 0.00052
NM_014855.3(AP5Z1):c.1806-15C>T rs201620155 0.00038
NM_014855.3(AP5Z1):c.675G>C (p.Val225=) rs374167435 0.00036
NM_014855.3(AP5Z1):c.1284C>G (p.Leu428=) rs368076671 0.00026
NM_014855.3(AP5Z1):c.2232G>A (p.Ala744=) rs534516510 0.00025
NM_014855.3(AP5Z1):c.1785G>T (p.Gly595=) rs774921196 0.00023
NM_014855.3(AP5Z1):c.511+19A>G rs367613413 0.00021
NM_014855.3(AP5Z1):c.258C>T (p.Cys86=) rs369050534 0.00019
NM_014855.3(AP5Z1):c.1600G>T (p.Ala534Ser) rs372517211 0.00018
NM_014855.3(AP5Z1):c.1965G>A (p.Ser655=) rs543467648 0.00016
NM_014855.3(AP5Z1):c.2019C>G (p.Ala673=) rs368623061 0.00015
NM_014855.3(AP5Z1):c.2375G>A (p.Arg792His) rs201677317 0.00015
NM_014855.3(AP5Z1):c.684C>T (p.Ser228=) rs746349613 0.00014
NM_014855.3(AP5Z1):c.550C>T (p.Leu184=) rs373829290 0.00012
NM_014855.3(AP5Z1):c.1595+16G>A rs775187848 0.00011
NM_014855.3(AP5Z1):c.765C>T (p.Pro255=) rs750707781 0.00011
NM_014855.3(AP5Z1):c.1132+7C>T rs775865217 0.00010
NM_014855.3(AP5Z1):c.2248C>A (p.Arg750=) rs376075136 0.00010
NM_014855.3(AP5Z1):c.636C>T (p.Thr212=) rs777143531 0.00010
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr) rs775883752 0.00009
NM_014855.3(AP5Z1):c.834C>T (p.Ser278=) rs113192428 0.00009
NM_014855.3(AP5Z1):c.931+10C>A rs377356001 0.00009
NM_014855.3(AP5Z1):c.970-12C>G rs372506896 0.00009
NM_014855.3(AP5Z1):c.1026C>T (p.Phe342=) rs759537675 0.00008
NM_014855.3(AP5Z1):c.1938+11C>T rs201888478 0.00008
NM_014855.3(AP5Z1):c.864G>A (p.Pro288=) rs372643577 0.00008
NM_014855.3(AP5Z1):c.1617G>C (p.Leu539=) rs569601905 0.00007
NM_014855.3(AP5Z1):c.1708-16C>T rs551043856 0.00007
NM_014855.3(AP5Z1):c.2013C>T (p.Phe671=) rs750771636 0.00007
NM_014855.3(AP5Z1):c.1110C>T (p.Leu370=) rs756954352 0.00006
NM_014855.3(AP5Z1):c.120C>T (p.Asp40=) rs374592930 0.00006
NM_014855.3(AP5Z1):c.1312-10G>A rs770895241 0.00006
NM_014855.3(AP5Z1):c.1485C>G (p.Leu495=) rs377274807 0.00006
NM_014855.3(AP5Z1):c.1527C>T (p.Phe509=) rs745794388 0.00006
NM_014855.3(AP5Z1):c.1806-4G>A rs547245020 0.00006
NM_014855.3(AP5Z1):c.417G>A (p.Ala139=) rs201203264 0.00006
NM_014855.3(AP5Z1):c.791-4G>A rs368052767 0.00006
NM_014855.3(AP5Z1):c.1356G>A (p.Ala452=) rs558636596 0.00005
NM_014855.3(AP5Z1):c.1707+8C>T rs374691049 0.00005
NM_014855.3(AP5Z1):c.195C>T (p.Cys65=) rs376335137 0.00005
NM_014855.3(AP5Z1):c.1974C>T (p.Tyr658=) rs375030531 0.00005
NM_014855.3(AP5Z1):c.318G>A (p.Thr106=) rs769266009 0.00005
NM_014855.3(AP5Z1):c.366+9G>A rs374673755 0.00005
NM_014855.3(AP5Z1):c.1254C>G (p.Leu418=) rs763868444 0.00004
NM_014855.3(AP5Z1):c.1437G>T (p.Val479=) rs1038245729 0.00004
NM_014855.3(AP5Z1):c.1536G>A (p.Pro512=) rs757364334 0.00004
NM_014855.3(AP5Z1):c.180-9G>A rs529887558 0.00004
NM_014855.3(AP5Z1):c.1839G>A (p.Thr613=) rs964017328 0.00004
NM_014855.3(AP5Z1):c.210G>A (p.Gln70=) rs767417376 0.00004
NM_014855.3(AP5Z1):c.2148C>A (p.Ile716=) rs578236834 0.00004
NM_014855.3(AP5Z1):c.540G>A (p.Leu180=) rs768017182 0.00004
NM_014855.3(AP5Z1):c.543C>T (p.Val181=) rs1050248739 0.00004
NM_014855.3(AP5Z1):c.660A>G (p.Thr220=) rs756140557 0.00004
NM_014855.3(AP5Z1):c.891C>T (p.Ala297=) rs763250825 0.00004
NM_014855.3(AP5Z1):c.894C>T (p.Phe298=) rs777233282 0.00004
NM_014855.3(AP5Z1):c.1365G>A (p.Pro455=) rs1274908825 0.00003
NM_014855.3(AP5Z1):c.1407G>A (p.Ala469=) rs757042274 0.00003
NM_014855.3(AP5Z1):c.1455-12C>T rs1038026978 0.00003
NM_014855.3(AP5Z1):c.219C>T (p.Leu73=) rs560439547 0.00003
NM_014855.3(AP5Z1):c.511+6C>T rs770095188 0.00003
NM_014855.3(AP5Z1):c.672G>A (p.Thr224=) rs369755844 0.00003
NM_014855.3(AP5Z1):c.948G>C (p.Gly316=) rs769272823 0.00003
NM_014855.3(AP5Z1):c.984C>T (p.Ala328=) rs763042987 0.00003
NM_014855.3(AP5Z1):c.1023C>T (p.Ser341=) rs975709752 0.00002
NM_014855.3(AP5Z1):c.1083G>A (p.Pro361=) rs773577764 0.00002
NM_014855.3(AP5Z1):c.117G>A (p.Pro39=) rs527642993 0.00002
NM_014855.3(AP5Z1):c.1500C>G (p.Leu500=) rs374604255 0.00002
NM_014855.3(AP5Z1):c.2109C>A (p.Thr703=) rs1244202957 0.00002
NM_014855.3(AP5Z1):c.702C>T (p.Asp234=) rs370728528 0.00002
NM_014855.3(AP5Z1):c.970-4G>A rs559842146 0.00002
NM_014855.3(AP5Z1):c.994C>T (p.Leu332=) rs1045333933 0.00002
NM_014855.3(AP5Z1):c.1074C>T (p.Arg358=) rs774452213 0.00001
NM_014855.3(AP5Z1):c.1119C>T (p.Phe373=) rs886062353 0.00001
NM_014855.3(AP5Z1):c.1428G>A (p.Leu476=) rs1554258349 0.00001
NM_014855.3(AP5Z1):c.1431G>A (p.Thr477=) rs369951556 0.00001
NM_014855.3(AP5Z1):c.1595+19A>G rs111580118 0.00001
NM_014855.3(AP5Z1):c.1597T>C (p.Leu533=) rs775572689 0.00001
NM_014855.3(AP5Z1):c.1611C>T (p.His537=) rs768151612 0.00001
NM_014855.3(AP5Z1):c.1665C>T (p.Ala555=) rs761290075 0.00001
NM_014855.3(AP5Z1):c.1707+14C>T rs759055397 0.00001
NM_014855.3(AP5Z1):c.1716C>T (p.Asp572=) rs777196051 0.00001
NM_014855.3(AP5Z1):c.171C>T (p.Tyr57=) rs750818039 0.00001
NM_014855.3(AP5Z1):c.179+15G>A rs749007746 0.00001
NM_014855.3(AP5Z1):c.1863G>A (p.Glu621=) rs780422345 0.00001
NM_014855.3(AP5Z1):c.2118G>A (p.Thr706=) rs374137416 0.00001
NM_014855.3(AP5Z1):c.2154-4C>G rs1392478975 0.00001
NM_014855.3(AP5Z1):c.2274G>A (p.Leu758=) rs965077399 0.00001
NM_014855.3(AP5Z1):c.2286C>T (p.Ser762=) rs542956735 0.00001
NM_014855.3(AP5Z1):c.2289G>C (p.Val763=) rs925870726 0.00001
NM_014855.3(AP5Z1):c.2367G>C (p.Leu789=) rs1405994261 0.00001
NM_014855.3(AP5Z1):c.2391G>T (p.Leu797=) rs750850551 0.00001
NM_014855.3(AP5Z1):c.561C>T (p.Ala187=) rs754635814 0.00001
NM_014855.3(AP5Z1):c.753G>A (p.Leu251=) rs908638350 0.00001
NM_014855.3(AP5Z1):c.791-10C>T rs760000663 0.00001
NM_014855.3(AP5Z1):c.819T>G (p.Thr273=) rs1395360669 0.00001
NM_014855.3(AP5Z1):c.903C>T (p.Cys301=) rs767005823 0.00001
NM_014855.3(AP5Z1):c.1020G>A (p.Pro340=)
NM_014855.3(AP5Z1):c.1020G>T (p.Pro340=)
NM_014855.3(AP5Z1):c.1101G>A (p.Leu367=)
NM_014855.3(AP5Z1):c.1133-12C>G
NM_014855.3(AP5Z1):c.1133-15dup
NM_014855.3(AP5Z1):c.1137A>G (p.Glu379=)
NM_014855.3(AP5Z1):c.1161C>T (p.Ala387=)
NM_014855.3(AP5Z1):c.1251C>T (p.Asn417=)
NM_014855.3(AP5Z1):c.1260G>A (p.Leu420=)
NM_014855.3(AP5Z1):c.1260G>T (p.Leu420=)
NM_014855.3(AP5Z1):c.1266C>T (p.Ser422=)
NM_014855.3(AP5Z1):c.1281C>A (p.Thr427=)
NM_014855.3(AP5Z1):c.1311+17C>G
NM_014855.3(AP5Z1):c.1311+7T>G
NM_014855.3(AP5Z1):c.1344C>T (p.Ser448=)
NM_014855.3(AP5Z1):c.1374G>A (p.Val458=)
NM_014855.3(AP5Z1):c.1455-14G>A
NM_014855.3(AP5Z1):c.1455-15C>T
NM_014855.3(AP5Z1):c.1455-18G>A
NM_014855.3(AP5Z1):c.1455-4G>A rs539344057
NM_014855.3(AP5Z1):c.1455-5C>T
NM_014855.3(AP5Z1):c.1506C>A (p.Ala502=)
NM_014855.3(AP5Z1):c.1524C>A (p.Ala508=)
NM_014855.3(AP5Z1):c.1530G>C (p.Arg510=) rs2115120162
NM_014855.3(AP5Z1):c.1536G>T (p.Pro512=) rs757364334
NM_014855.3(AP5Z1):c.1566G>A (p.Leu522=)
NM_014855.3(AP5Z1):c.1569C>T (p.Arg523=)
NM_014855.3(AP5Z1):c.1595+10C>T
NM_014855.3(AP5Z1):c.1595+17C>A
NM_014855.3(AP5Z1):c.1595+8G>A
NM_014855.3(AP5Z1):c.1596-19G>A
NM_014855.3(AP5Z1):c.1596-20C>A
NM_014855.3(AP5Z1):c.1596-20C>T
NM_014855.3(AP5Z1):c.1596-5C>T
NM_014855.3(AP5Z1):c.1632C>T (p.Ala544=)
NM_014855.3(AP5Z1):c.1635C>T (p.Gly545=)
NM_014855.3(AP5Z1):c.1650C>G (p.Ala550=)
NM_014855.3(AP5Z1):c.1665C>G (p.Ala555=) rs761290075
NM_014855.3(AP5Z1):c.1674G>A (p.Thr558=)
NM_014855.3(AP5Z1):c.1686A>G (p.Ala562=)
NM_014855.3(AP5Z1):c.1707+16G>A
NM_014855.3(AP5Z1):c.1708-18C>T
NM_014855.3(AP5Z1):c.1708-6C>T
NM_014855.3(AP5Z1):c.1728C>A (p.Ile576=) rs550686881
NM_014855.3(AP5Z1):c.1740G>A (p.Ala580=) rs773950276
NM_014855.3(AP5Z1):c.1741C>T (p.Leu581=)
NM_014855.3(AP5Z1):c.1767G>A (p.Ser589=) rs369091114
NM_014855.3(AP5Z1):c.1767G>C (p.Ser589=) rs369091114
NM_014855.3(AP5Z1):c.1767G>T (p.Ser589=) rs369091114
NM_014855.3(AP5Z1):c.1794C>G (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.3(AP5Z1):c.180-16G>A
NM_014855.3(AP5Z1):c.180-19C>T
NM_014855.3(AP5Z1):c.1805+11C>T
NM_014855.3(AP5Z1):c.1805+16G>A
NM_014855.3(AP5Z1):c.1805+20C>G
NM_014855.3(AP5Z1):c.1805+8C>G
NM_014855.3(AP5Z1):c.1839G>T (p.Thr613=)
NM_014855.3(AP5Z1):c.1854G>C (p.Leu618=) rs1000978059
NM_014855.3(AP5Z1):c.1872A>G (p.Arg624=)
NM_014855.3(AP5Z1):c.1893C>T (p.Gly631=)
NM_014855.3(AP5Z1):c.1920G>A (p.Ala640=) rs369767394
NM_014855.3(AP5Z1):c.1920G>T (p.Ala640=)
NM_014855.3(AP5Z1):c.1923C>T (p.Ser641=) rs773754717
NM_014855.3(AP5Z1):c.1926C>T (p.Leu642=)
NM_014855.3(AP5Z1):c.1938+12G>A
NM_014855.3(AP5Z1):c.1938+18C>T
NM_014855.3(AP5Z1):c.1938+8G>A
NM_014855.3(AP5Z1):c.1938+9G>C
NM_014855.3(AP5Z1):c.1939-11C>A rs377395124
NM_014855.3(AP5Z1):c.1939-16_1939-15del
NM_014855.3(AP5Z1):c.1939-5C>T
NM_014855.3(AP5Z1):c.1939-6del
NM_014855.3(AP5Z1):c.1950C>T (p.Ile650=)
NM_014855.3(AP5Z1):c.2010C>T (p.Phe670=)
NM_014855.3(AP5Z1):c.2025G>A (p.Glu675=) rs758146937
NM_014855.3(AP5Z1):c.2043C>T (p.Val681=)
NM_014855.3(AP5Z1):c.2085C>T (p.Pro695=) rs746736951
NM_014855.3(AP5Z1):c.2088G>A (p.Gln696=)
NM_014855.3(AP5Z1):c.2097C>T (p.Thr699=)
NM_014855.3(AP5Z1):c.2112G>A (p.Thr704=) rs765844025
NM_014855.3(AP5Z1):c.2130C>A (p.Ser710=)
NM_014855.3(AP5Z1):c.2145G>A (p.Leu715=)
NM_014855.3(AP5Z1):c.2145G>T (p.Leu715=)
NM_014855.3(AP5Z1):c.2151C>T (p.Pro717=) rs1781745482
NM_014855.3(AP5Z1):c.2153+13G>A
NM_014855.3(AP5Z1):c.2153+8G>C rs189564026
NM_014855.3(AP5Z1):c.2154-15A>T
NM_014855.3(AP5Z1):c.2154-16G>A
NM_014855.3(AP5Z1):c.2154-16G>C rs1562415433
NM_014855.3(AP5Z1):c.2154-18G>A
NM_014855.3(AP5Z1):c.2154-5C>T
NM_014855.3(AP5Z1):c.2184C>T (p.Thr728=)
NM_014855.3(AP5Z1):c.2196T>C (p.Ser732=) rs1472223606
NM_014855.3(AP5Z1):c.2199A>T (p.Pro733=)
NM_014855.3(AP5Z1):c.2202C>A (p.Ala734=)
NM_014855.3(AP5Z1):c.2214G>A (p.Thr738=)
NM_014855.3(AP5Z1):c.2220C>T (p.Ser740=)
NM_014855.3(AP5Z1):c.2253C>T (p.Ala751=)
NM_014855.3(AP5Z1):c.2268C>T (p.Thr756=)
NM_014855.3(AP5Z1):c.2283T>G (p.Pro761=)
NM_014855.3(AP5Z1):c.2355G>A (p.Thr785=)
NM_014855.3(AP5Z1):c.2361G>A (p.Leu787=) rs878854988
NM_014855.3(AP5Z1):c.2379G>A (p.Thr793=)
NM_014855.3(AP5Z1):c.2391G>A (p.Leu797=)
NM_014855.3(AP5Z1):c.2394G>A (p.Val798=)
NM_014855.3(AP5Z1):c.2394G>T (p.Val798=)
NM_014855.3(AP5Z1):c.2406C>T (p.Ala802=)
NM_014855.3(AP5Z1):c.318G>C (p.Thr106=)
NM_014855.3(AP5Z1):c.324C>T (p.Asn108=) rs1307463422
NM_014855.3(AP5Z1):c.366+19C>T
NM_014855.3(AP5Z1):c.378C>T (p.Asn126=) rs775332430
NM_014855.3(AP5Z1):c.41+15C>T
NM_014855.3(AP5Z1):c.41+19C>T
NM_014855.3(AP5Z1):c.41+8_41+9del
NM_014855.3(AP5Z1):c.41+9G>A
NM_014855.3(AP5Z1):c.438G>A (p.Glu146=)
NM_014855.3(AP5Z1):c.465C>T (p.Pro155=) rs758859483
NM_014855.3(AP5Z1):c.480C>T (p.Val160=)
NM_014855.3(AP5Z1):c.495G>A (p.Pro165=)
NM_014855.3(AP5Z1):c.511+8G>A
NM_014855.3(AP5Z1):c.511+9G>T
NM_014855.3(AP5Z1):c.546C>T (p.Asp182=)
NM_014855.3(AP5Z1):c.596TCT[1] (p.Phe200del) rs759357796
NM_014855.3(AP5Z1):c.612G>A (p.Arg204=)
NM_014855.3(AP5Z1):c.615C>T (p.Ala205=)
NM_014855.3(AP5Z1):c.621+11G>T
NM_014855.3(AP5Z1):c.621+18C>G
NM_014855.3(AP5Z1):c.622-7C>T rs1332740790
NM_014855.3(AP5Z1):c.630C>T (p.Pro210=)
NM_014855.3(AP5Z1):c.699A>G (p.Thr233=) rs761636459
NM_014855.3(AP5Z1):c.717C>T (p.Asn239=)
NM_014855.3(AP5Z1):c.732T>C (p.Ser244=)
NM_014855.3(AP5Z1):c.790+10G>A rs2115109800
NM_014855.3(AP5Z1):c.791-5C>G
NM_014855.3(AP5Z1):c.791-6C>T
NM_014855.3(AP5Z1):c.822G>C (p.Leu274=)
NM_014855.3(AP5Z1):c.825G>A (p.Ser275=)
NM_014855.3(AP5Z1):c.873G>A (p.Glu291=)
NM_014855.3(AP5Z1):c.927C>T (p.Asn309=)
NM_014855.3(AP5Z1):c.931+15del
NM_014855.3(AP5Z1):c.932-12C>T
NM_014855.3(AP5Z1):c.932-19C>T
NM_014855.3(AP5Z1):c.932-7C>A
NM_014855.3(AP5Z1):c.936C>G (p.Ala312=)
NM_014855.3(AP5Z1):c.954C>T (p.Ser318=)
NM_014855.3(AP5Z1):c.960G>C (p.Leu320=)
NM_014855.3(AP5Z1):c.969+14G>A
NM_014855.3(AP5Z1):c.969+17C>T
NM_014855.3(AP5Z1):c.969+18A>G
NM_014855.3(AP5Z1):c.969+3_969+6dup rs748280348
NM_014855.3(AP5Z1):c.970-13C>G
NM_014855.3(AP5Z1):c.984C>G (p.Ala328=) rs763042987
NM_014855.3(AP5Z1):c.988C>T (p.Leu330=) rs376680652

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