ClinVar Miner

List of variants in gene SPG7 reported as likely benign for Hereditary spastic paraplegia 7

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Gene type:
ClinVar version:
Total variants: 219
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_003119.4(SPG7):c.*195C>T rs113818240 0.01111
NM_003119.4(SPG7):c.*140G>T rs112587045 0.01110
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712 0.01110
NM_003119.4(SPG7):c.*592C>T rs8059296 0.01109
NM_003119.4(SPG7):c.*656G>C rs8058221 0.01109
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01053
NM_003119.4(SPG7):c.*362C>T rs111725561 0.00744
NM_003119.4(SPG7):c.*549A>C rs114970695 0.00742
NM_003119.4(SPG7):c.*441T>C rs114306117 0.00720
NM_003119.4(SPG7):c.1936+12C>T rs112379588 0.00628
NM_003119.4(SPG7):c.987+19G>A rs62071462 0.00263
NM_003119.4(SPG7):c.1324+10C>T rs202070075 0.00073
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) rs2099104 0.00073
NM_003119.4(SPG7):c.199C>T (p.Leu67=) rs148315471 0.00066
NM_003119.4(SPG7):c.1936+13G>A rs147242721 0.00061
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003119.4(SPG7):c.1593C>T (p.His531=) rs61747706 0.00047
NM_003119.4(SPG7):c.474C>T (p.Leu158=) rs139742860 0.00038
NM_003119.4(SPG7):c.318G>A (p.Leu106=) rs115601365 0.00031
NM_003119.4(SPG7):c.244C>G (p.Gln82Glu) rs146115797 0.00027
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser) rs201543030 0.00024
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299 0.00024
NM_003119.4(SPG7):c.822G>C (p.Leu274=) rs148032495 0.00024
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791 0.00022
NM_003119.4(SPG7):c.2182-18T>C rs374106302 0.00019
NM_003119.4(SPG7):c.1764G>A (p.Thr588=) rs373536584 0.00017
NM_003119.4(SPG7):c.1197C>T (p.Ala399=) rs373627269 0.00012
NM_003119.4(SPG7):c.2250G>A (p.Pro750=) rs144039221 0.00012
NM_003119.4(SPG7):c.2274C>T (p.Ile758=) rs147302322 0.00011
NM_003119.4(SPG7):c.250T>C (p.Leu84=) rs138965309 0.00011
NM_003119.4(SPG7):c.1275C>T (p.Ser425=) rs778305316 0.00010
NM_003119.4(SPG7):c.1664-13G>A rs376384545 0.00010
NM_003119.4(SPG7):c.338A>G (p.Lys113Arg) rs771130240 0.00010
NM_003119.4(SPG7):c.638G>A (p.Arg213Gln) rs147673636 0.00010
NM_003119.4(SPG7):c.1053C>T (p.Pro351=) rs762689331 0.00009
NM_003119.4(SPG7):c.1324+18C>T rs372803371 0.00009
NM_003119.4(SPG7):c.1971C>T (p.Ile657=) rs140356355 0.00009
NM_003119.4(SPG7):c.454A>G (p.Met152Val) rs146186857 0.00009
NM_003119.4(SPG7):c.483C>T (p.Ser161=) rs144509309 0.00009
NM_003119.4(SPG7):c.2058C>T (p.Ile686=) rs776262023 0.00008
NM_003119.4(SPG7):c.2083C>G (p.Leu695Val) rs754203248 0.00008
NM_003119.4(SPG7):c.2103+7C>T rs372981678 0.00008
NM_003119.4(SPG7):c.1663+9G>A rs756489401 0.00007
NM_003119.4(SPG7):c.1937-15G>A rs201272528 0.00007
NM_003119.4(SPG7):c.306C>T (p.Asn102=) rs147397994 0.00007
NM_003119.4(SPG7):c.1236G>A (p.Ala412=) rs201129878 0.00006
NM_003119.4(SPG7):c.1325-6C>T rs371986686 0.00006
NM_003119.4(SPG7):c.1611C>G (p.His537Gln) rs139952725 0.00006
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr) rs549735647 0.00006
NM_003119.4(SPG7):c.516C>T (p.His172=) rs141065708 0.00006
NM_003119.4(SPG7):c.1728G>A (p.Ser576=) rs369686424 0.00005
NM_003119.4(SPG7):c.547G>A (p.Val183Ile) rs373636036 0.00005
NM_003119.4(SPG7):c.618+16G>A rs370158052 0.00005
NM_003119.4(SPG7):c.1266C>T (p.Ser422=) rs767857665 0.00004
NM_003119.4(SPG7):c.1422C>T (p.His474=) rs201482100 0.00004
NM_003119.4(SPG7):c.1553-20G>A rs753649905 0.00004
NM_003119.4(SPG7):c.1663+14G>A rs368500645 0.00004
NM_003119.4(SPG7):c.1812G>A (p.Leu604=) rs114474424 0.00004
NM_003119.4(SPG7):c.1830C>T (p.Leu610=) rs746099594 0.00004
NM_003119.4(SPG7):c.184-4T>C rs533778042 0.00004
NM_003119.4(SPG7):c.1936+15C>T rs370954971 0.00004
NM_003119.4(SPG7):c.2298C>G (p.Ala766=) rs61756187 0.00004
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) rs114255772 0.00004
NM_003119.4(SPG7):c.1552+16G>T rs746083152 0.00003
NM_003119.4(SPG7):c.1626T>A (p.Thr542=) rs781398870 0.00003
NM_003119.4(SPG7):c.1936+18G>A rs75437341 0.00003
NM_003119.4(SPG7):c.2247G>A (p.Pro749=) rs757358666 0.00003
NM_003119.4(SPG7):c.619-4C>G rs754935334 0.00003
NM_003119.4(SPG7):c.663G>A (p.Lys221=) rs575421836 0.00003
NM_003119.4(SPG7):c.759-6C>T rs568452581 0.00003
NM_003119.4(SPG7):c.993A>G (p.Pro331=) rs377211352 0.00003
NM_003119.4(SPG7):c.1242C>G (p.Gly414=) rs776578314 0.00002
NM_003119.4(SPG7):c.1599G>A (p.Ala533=) rs561746823 0.00002
NM_003119.4(SPG7):c.228C>T (p.Asn76=) rs369989832 0.00002
NM_003119.4(SPG7):c.234G>T (p.Leu78Phe) rs770487062 0.00002
NM_003119.4(SPG7):c.423G>T (p.Arg141=) rs777943597 0.00002
NM_003119.4(SPG7):c.619-7C>A rs779835775 0.00002
NM_003119.4(SPG7):c.1005C>T (p.Leu335=) rs1348515048 0.00001
NM_003119.4(SPG7):c.1050C>T (p.Pro350=) rs1360515266 0.00001
NM_003119.4(SPG7):c.1068G>A (p.Thr356=) rs368612689 0.00001
NM_003119.4(SPG7):c.1080G>A (p.Lys360=) rs1212650663 0.00001
NM_003119.4(SPG7):c.1092G>A (p.Thr364=) rs771190749 0.00001
NM_003119.4(SPG7):c.1191C>G (p.Ala397=) rs1597635045 0.00001
NM_003119.4(SPG7):c.1254C>T (p.Ser418=) rs1056819996 0.00001
NM_003119.4(SPG7):c.1281G>A (p.Thr427=) rs369614581 0.00001
NM_003119.4(SPG7):c.1644C>T (p.Ala548=) rs145441974 0.00001
NM_003119.4(SPG7):c.1663+11C>T rs778284438 0.00001
NM_003119.4(SPG7):c.1695G>A (p.Lys565=) rs1426006851 0.00001
NM_003119.4(SPG7):c.1780-7G>C rs775799537 0.00001
NM_003119.4(SPG7):c.204A>G (p.Leu68=) rs566363528 0.00001
NM_003119.4(SPG7):c.2182-19C>T rs752601752 0.00001
NM_003119.4(SPG7):c.2253C>T (p.Pro751=) rs1466411495 0.00001
NM_003119.4(SPG7):c.2373G>A (p.Pro791=) rs768453376 0.00001
NM_003119.4(SPG7):c.287-15C>G rs760006158 0.00001
NM_003119.4(SPG7):c.504C>T (p.Asn168=) rs151078862 0.00001
NM_003119.4(SPG7):c.618+14C>T rs574361328 0.00001
NM_003119.4(SPG7):c.618+8A>G rs768740995 0.00001
NM_003119.4(SPG7):c.759-4G>A rs777052133 0.00001
NM_003119.4(SPG7):c.783G>A (p.Thr261=) rs778798038 0.00001
NM_003119.4(SPG7):c.862-15G>A rs1208489603 0.00001
NM_003119.4(SPG7):c.891T>A (p.Ile297=) rs773162353 0.00001
NM_003119.4(SPG7):c.930C>T (p.Asp310=) rs779449885 0.00001
NM_003119.4(SPG7):c.988-6G>A rs779901380 0.00001
NM_003119.4(SPG7):c.*587G>A rs8058041
NM_003119.4(SPG7):c.1044C>T (p.Leu348=)
NM_003119.4(SPG7):c.1047C>A (p.Gly349=)
NM_003119.4(SPG7):c.1053C>G (p.Pro351=) rs762689331
NM_003119.4(SPG7):c.1083G>C (p.Ala361=) rs114135540
NM_003119.4(SPG7):c.1116G>A (p.Ala372=)
NM_003119.4(SPG7):c.1116G>C (p.Ala372=)
NM_003119.4(SPG7):c.1150+13G>C
NM_003119.4(SPG7):c.1150+9T>A
NM_003119.4(SPG7):c.1151-14C>G
NM_003119.4(SPG7):c.1151-16C>G
NM_003119.4(SPG7):c.1151-7C>T
NM_003119.4(SPG7):c.1230C>A (p.Ile410=)
NM_003119.4(SPG7):c.1248G>A (p.Lys416=)
NM_003119.4(SPG7):c.1266C>G (p.Ser422=) rs767857665
NM_003119.4(SPG7):c.1296G>A (p.Thr432=)
NM_003119.4(SPG7):c.1305G>A (p.Gln435=) rs559906913
NM_003119.4(SPG7):c.1324+11G>A
NM_003119.4(SPG7):c.1324+15G>A
NM_003119.4(SPG7):c.1324+19C>T
NM_003119.4(SPG7):c.1324+20G>A
NM_003119.4(SPG7):c.1325-12_1325-11del
NM_003119.4(SPG7):c.1350C>T (p.Ile450=) rs145124867
NM_003119.4(SPG7):c.1393C>T (p.Leu465=)
NM_003119.4(SPG7):c.1419G>T (p.Arg473=) rs764199066
NM_003119.4(SPG7):c.1440C>A (p.Pro480=)
NM_003119.4(SPG7):c.1443G>A (p.Thr481=)
NM_003119.4(SPG7):c.1450-17T>C
NM_003119.4(SPG7):c.1455G>A (p.Arg485=)
NM_003119.4(SPG7):c.1486C>T (p.Leu496=)
NM_003119.4(SPG7):c.1497C>A (p.Thr499=)
NM_003119.4(SPG7):c.1552+15C>T
NM_003119.4(SPG7):c.1552+4_1552+11dup
NM_003119.4(SPG7):c.1553-4A>G rs113450752
NM_003119.4(SPG7):c.1553-4A>T
NM_003119.4(SPG7):c.1553-5G>C rs1463414333
NM_003119.4(SPG7):c.1584T>C (p.Ala528=)
NM_003119.4(SPG7):c.1641C>T (p.Tyr547=)
NM_003119.4(SPG7):c.1647G>A (p.Val549=) rs2152410319
NM_003119.4(SPG7):c.1663+12G>A
NM_003119.4(SPG7):c.1664-17C>T
NM_003119.4(SPG7):c.1664-7C>A
NM_003119.4(SPG7):c.1668T>G (p.Thr556=)
NM_003119.4(SPG7):c.1680C>T (p.Ser560=)
NM_003119.4(SPG7):c.1728G>C (p.Ser576=)
NM_003119.4(SPG7):c.1737C>G (p.Ala579=) rs2152411087
NM_003119.4(SPG7):c.1773G>C (p.Val591=)
NM_003119.4(SPG7):c.1779+10G>A
NM_003119.4(SPG7):c.1779+12C>A
NM_003119.4(SPG7):c.1803C>T (p.Asn601=)
NM_003119.4(SPG7):c.184-19del
NM_003119.4(SPG7):c.1887C>G (p.Ala629=)
NM_003119.4(SPG7):c.1923C>T (p.Asn641=)
NM_003119.4(SPG7):c.192A>G (p.Gln64=)
NM_003119.4(SPG7):c.1936+16G>A
NM_003119.4(SPG7):c.1936+17C>T
NM_003119.4(SPG7):c.1936+8G>A
NM_003119.4(SPG7):c.1936+9C>T
NM_003119.4(SPG7):c.1937-10C>T
NM_003119.4(SPG7):c.1937-11C>T
NM_003119.4(SPG7):c.1937-16C>T
NM_003119.4(SPG7):c.193T>C (p.Leu65=)
NM_003119.4(SPG7):c.1974C>G (p.Ala658=)
NM_003119.4(SPG7):c.2013C>T (p.Ile671=)
NM_003119.4(SPG7):c.2104-12C>G
NM_003119.4(SPG7):c.2142C>T (p.Thr714=) rs201878285
NM_003119.4(SPG7):c.2173T>C (p.Leu725=)
NM_003119.4(SPG7):c.2182-4C>A
NM_003119.4(SPG7):c.2322C>T (p.Gly774=)
NM_003119.4(SPG7):c.2334C>T (p.Thr778=)
NM_003119.4(SPG7):c.246A>G (p.Gln82=)
NM_003119.4(SPG7):c.264A>C (p.Pro88=)
NM_003119.4(SPG7):c.288T>G (p.Gly96=) rs2058041135
NM_003119.4(SPG7):c.339G>A (p.Lys113=)
NM_003119.4(SPG7):c.357G>A (p.Lys119=) rs1209945253
NM_003119.4(SPG7):c.360G>A (p.Ala120=)
NM_003119.4(SPG7):c.360G>C (p.Ala120=) rs376376359
NM_003119.4(SPG7):c.372C>T (p.Asp124=)
NM_003119.4(SPG7):c.376+12T>C
NM_003119.4(SPG7):c.376+16_376+18del
NM_003119.4(SPG7):c.376+18T>A rs2152394850
NM_003119.4(SPG7):c.377-6G>A rs1555611445
NM_003119.4(SPG7):c.402C>T (p.Asp134=)
NM_003119.4(SPG7):c.438G>A (p.Leu146=)
NM_003119.4(SPG7):c.450T>C (p.Val150=)
NM_003119.4(SPG7):c.495T>C (p.Ile165=)
NM_003119.4(SPG7):c.558G>C (p.Val186=) rs754129188
NM_003119.4(SPG7):c.561T>C (p.Pro187=)
NM_003119.4(SPG7):c.573G>A (p.Val191=)
NM_003119.4(SPG7):c.619-10T>C
NM_003119.4(SPG7):c.619-20C>G
NM_003119.4(SPG7):c.627C>T (p.Ala209=)
NM_003119.4(SPG7):c.630G>A (p.Leu210=)
NM_003119.4(SPG7):c.672G>A (p.Glu224=)
NM_003119.4(SPG7):c.697C>T (p.Leu233=) rs751353500
NM_003119.4(SPG7):c.705C>T (p.Ile235=) rs115244515
NM_003119.4(SPG7):c.732C>G (p.Ser244=)
NM_003119.4(SPG7):c.750C>T (p.Phe250=)
NM_003119.4(SPG7):c.758+14A>G
NM_003119.4(SPG7):c.759-12_759-11del rs779395474
NM_003119.4(SPG7):c.759-18CT[2]
NM_003119.4(SPG7):c.759-20G>C
NM_003119.4(SPG7):c.762C>T (p.Ala254=)
NM_003119.4(SPG7):c.763C>T (p.Leu255=) rs2058311848
NM_003119.4(SPG7):c.792C>T (p.Gly264=)
NM_003119.4(SPG7):c.861+10G>A
NM_003119.4(SPG7):c.861+18G>T
NM_003119.4(SPG7):c.861+19A>G rs2152402127
NM_003119.4(SPG7):c.861+20G>C
NM_003119.4(SPG7):c.862-18T>G
NM_003119.4(SPG7):c.933G>C (p.Val311=) rs1157953850
NM_003119.4(SPG7):c.951C>A (p.Ala317=)
NM_003119.4(SPG7):c.987+11C>T
NM_003119.4(SPG7):c.988-12G>C

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