ClinVar Miner

List of variants in gene SPG7 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 155
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HGVS dbSNP
GRCh37/hg19 16q24.3(chr16:89623304-89624182)x3
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1150+19_1150+31delGGCTGTGGGTGGG rs1379023827
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.3(SPG7):c.1780-16_1780-14del rs863224213
NM_003119.3(SPG7):c.184-18delT rs5818722
NM_003119.4(SPG7):c.1014C>T (p.Gly338=) rs576575379
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1068G>A (p.Thr356=) rs368612689
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540
NM_003119.4(SPG7):c.1171C>T (p.Arg391Trp) rs1057524520
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter) rs1373388852
NM_003119.4(SPG7):c.1197C>T (p.Ala399=) rs373627269
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp) rs748024868
NM_003119.4(SPG7):c.120G>A (p.Gly40=) rs187330648
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser) rs201543030
NM_003119.4(SPG7):c.1305G>T (p.Gln435His) rs559906913
NM_003119.4(SPG7):c.1324+10C>T rs202070075
NM_003119.4(SPG7):c.1324+197C>T
NM_003119.4(SPG7):c.1324+308G>T
NM_003119.4(SPG7):c.1324+3845T>C
NM_003119.4(SPG7):c.1324+3850T>C
NM_003119.4(SPG7):c.1324+3852A>G
NM_003119.4(SPG7):c.1324+3855T>C
NM_003119.4(SPG7):c.1324+3861del
NM_003119.4(SPG7):c.1324+3865G>C
NM_003119.4(SPG7):c.1324+3884C>G
NM_003119.4(SPG7):c.1324+4173C>T rs144415749
NM_003119.4(SPG7):c.1324+4187C>T rs143254053
NM_003119.4(SPG7):c.1324+4542A>G
NM_003119.4(SPG7):c.1325-6C>T rs371986686
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter) rs138671904
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289
NM_003119.4(SPG7):c.1449+174C>T
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003119.4(SPG7):c.1552+16G>T rs746083152
NM_003119.4(SPG7):c.1552+205G>A
NM_003119.4(SPG7):c.1552+231C>T
NM_003119.4(SPG7):c.1552+244T>C
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460
NM_003119.4(SPG7):c.1553-6T>G rs778948827
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) rs748600162
NM_003119.4(SPG7):c.1593C>T (p.His531=) rs61747706
NM_003119.4(SPG7):c.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.1643C>A (p.Ala548Asp) rs863224220
NM_003119.4(SPG7):c.1644C>T (p.Ala548=) rs145441974
NM_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686
NM_003119.4(SPG7):c.1656C>T (p.Val552=) rs758338586
NM_003119.4(SPG7):c.1663+13C>T rs80324518
NM_003119.4(SPG7):c.1663+14G>A rs368500645
NM_003119.4(SPG7):c.1664-11C>A rs574656941
NM_003119.4(SPG7):c.1664-15C>A rs80292600
NM_003119.4(SPG7):c.1664-177C>T
NM_003119.4(SPG7):c.1664-344T>C
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1760A>C (p.His587Pro) rs1057524632
NM_003119.4(SPG7):c.1770C>T (p.Ala590=) rs60488729
NM_003119.4(SPG7):c.1771G>A (p.Val591Met) rs199804717
NM_003119.4(SPG7):c.1779+20G>A rs145805850
NM_003119.4(SPG7):c.1830C>T (p.Leu610=) rs746099594
NM_003119.4(SPG7):c.184-235G>A
NM_003119.4(SPG7):c.1890G>A (p.Leu630=) rs767213993
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr) rs549735647
NM_003119.4(SPG7):c.1929C>T (p.Val643=) rs746082965
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) rs2099104
NM_003119.4(SPG7):c.1936+12C>T rs112379588
NM_003119.4(SPG7):c.1936+13G>A rs147242721
NM_003119.4(SPG7):c.1936+154G>T
NM_003119.4(SPG7):c.1937-15G>A rs201272528
NM_003119.4(SPG7):c.1937-16C>G rs74590011
NM_003119.4(SPG7):c.1937-9G>A rs371739639
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser) rs199689138
NM_003119.4(SPG7):c.1953G>A (p.Leu651=) rs1057523048
NM_003119.4(SPG7):c.199C>T (p.Leu67=) rs148315471
NM_003119.4(SPG7):c.2037G>A (p.Ala679=) rs79756036
NM_003119.4(SPG7):c.2041G>C (p.Glu681Gln) rs863224221
NM_003119.4(SPG7):c.204A>G (p.Leu68=) rs566363528
NM_003119.4(SPG7):c.2070del (p.Phe691fs) rs1555617559
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
NM_003119.4(SPG7):c.2096dup (p.Met699fs) rs747503698
NM_003119.4(SPG7):c.2103+7C>T rs372981678
NM_003119.4(SPG7):c.2103+8G>A rs1015822207
NM_003119.4(SPG7):c.2104-24del
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) rs752257333
NM_003119.4(SPG7):c.2143G>A (p.Glu715Lys) rs374302115
NM_003119.4(SPG7):c.2178G>A (p.Gln726=) rs1175352443
NM_003119.4(SPG7):c.2182-18T>C rs374106302
NM_003119.4(SPG7):c.2182C>G (p.Leu728Val) rs1433673841
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032
NM_003119.4(SPG7):c.2189del (p.Asn730fs) rs863224223
NM_003119.4(SPG7):c.21G>A (p.Leu7=) rs753694369
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791
NM_003119.4(SPG7):c.2227A>C (p.Ile743Leu) rs372231786
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413
NM_003119.4(SPG7):c.2250G>A (p.Pro750=) rs144039221
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075
NM_003119.4(SPG7):c.2292C>T (p.Ile764=) rs61747711
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712
NM_003119.4(SPG7):c.2298C>G (p.Ala766=) rs61756187
NM_003119.4(SPG7):c.2311C>G (p.Gln771Glu) rs863224214
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_003119.4(SPG7):c.244C>G (p.Gln82Glu) rs146115797
NM_003119.4(SPG7):c.287-233G>A
NM_003119.4(SPG7):c.287-280A>G
NM_003119.4(SPG7):c.318G>A (p.Leu106=)
NM_003119.4(SPG7):c.347C>T (p.Ser116Leu) rs149474131
NM_003119.4(SPG7):c.376+105G>T
NM_003119.4(SPG7):c.376+140C>T
NM_003119.4(SPG7):c.376+1G>T rs746053679
NM_003119.4(SPG7):c.377-171G>A
NM_003119.4(SPG7):c.377-8C>T rs373168400
NM_003119.4(SPG7):c.388C>T (p.Arg130Cys) rs863224217
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn) rs767820132
NM_003119.4(SPG7):c.412T>A (p.Tyr138Asn) rs863224218
NM_003119.4(SPG7):c.413A>C (p.Tyr138Ser) rs377268309
NM_003119.4(SPG7):c.416_432del (p.Arg139fs) rs1085307874
NM_003119.4(SPG7):c.445G>A (p.Ala149Thr) rs777638594
NM_003119.4(SPG7):c.483C>T (p.Ser161=) rs144509309
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr) rs535030441
NM_003119.4(SPG7):c.516C>T (p.His172=) rs141065708
NM_003119.4(SPG7):c.524T>C (p.Leu175Pro) rs149797758
NM_003119.4(SPG7):c.57T>C (p.Pro19=) rs1555608404
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys) rs145776296
NM_003119.4(SPG7):c.58C>T (p.Arg20Trp) rs863224222
NM_003119.4(SPG7):c.618+11_618+68del rs1555611542
NM_003119.4(SPG7):c.618+15G>A rs766767456
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523
NM_003119.4(SPG7):c.703A>G (p.Ile235Val) rs191022979
NM_003119.4(SPG7):c.758+294C>T
NM_003119.4(SPG7):c.758+316A>G
NM_003119.4(SPG7):c.758+322C>T
NM_003119.4(SPG7):c.759-162G>A
NM_003119.4(SPG7):c.782C>T (p.Thr261Met) rs370949294
NM_003119.4(SPG7):c.806G>A (p.Trp269Ter) rs1235945505
NM_003119.4(SPG7):c.861+196C>T
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.862-16T>G rs199954282
NM_003119.4(SPG7):c.865C>T (p.Gln289Ter) rs1131691968
NM_003119.4(SPG7):c.881G>A (p.Arg294His) rs115661328
NM_003119.4(SPG7):c.941T>C (p.Met314Thr) rs863224219
NM_003119.4(SPG7):c.95G>A (p.Gly32Glu) rs863224216
NM_003119.4(SPG7):c.987+19G>A rs62071462
NM_003119.4(SPG7):c.987+216A>G
NM_003119.4(SPG7):c.987+57C>T
NM_003119.4(SPG7):c.9G>T (p.Val3=) rs553241838

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