ClinVar Miner

List of variants in gene SPG7 studied for Hereditary spastic paraplegia

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_003119.4(SPG7):c.2292C>T (p.Ile764=) rs61747711 0.02864
NM_003119.4(SPG7):c.1770C>T (p.Ala590=) rs60488729 0.01823
NM_003119.4(SPG7):c.2037G>A (p.Ala679=) rs79756036 0.01778
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712 0.01110
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01053
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686 0.00386
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.1083G>A (p.Ala361=) rs114135540 0.00089
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.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg) rs114854791 0.00022
NM_003119.4(SPG7):c.1939G>T (p.Ala647Ser) rs199689138 0.00017
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val) rs72547551 0.00015
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_003119.4(SPG7):c.250T>C (p.Leu84=) rs138965309 0.00011
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_003119.4(SPG7):c.638G>A (p.Arg213Gln) rs147673636 0.00010
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 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.1422C>T (p.His474=) rs201482100 0.00004
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter) rs562890289 0.00004
NM_003119.4(SPG7):c.1151-8C>T rs200402056 0.00003
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648 0.00003
NM_003119.4(SPG7):c.759-6C>T rs568452581 0.00003
NM_003119.4(SPG7):c.878C>T (p.Ala293Val) rs201723702 0.00003
NM_003119.4(SPG7):c.706G>A (p.Glu236Lys) rs376360606 0.00002
NM_003119.4(SPG7):c.1046G>T (p.Gly349Val) rs1387985266 0.00001
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) rs537421502 0.00001
NM_003119.4(SPG7):c.1257C>T (p.Thr419=) rs766401031 0.00001
NM_003119.4(SPG7):c.1519C>T (p.Gln507Ter) rs1482442290 0.00001
NM_003119.4(SPG7):c.1523G>A (p.Arg508His) rs201733920 0.00001
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030 0.00001
NM_003119.4(SPG7):c.2225A>G (p.Asp742Gly) rs759329959 0.00001
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu) rs879253797 0.00001
NM_003119.4(SPG7):c.376G>C (p.Glu126Gln) rs912983346 0.00001
NM_003119.4(SPG7):c.618+8A>G rs768740995 0.00001
NM_003119.4(SPG7):c.988-1G>A rs748309520 0.00001
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1207T>A (p.Cys403Ser) rs2152403786
NM_003119.4(SPG7):c.1442C>G (p.Thr481Arg) rs376713807
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) rs376713807
NM_003119.4(SPG7):c.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala) rs1329063851
NM_003119.4(SPG7):c.184-5_184-4del rs5818722
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) rs368541637
NM_003119.4(SPG7):c.1897C>T (p.Arg633Trp) rs1350253332
NM_003119.4(SPG7):c.1940C>T (p.Ala647Val) rs776380988
NM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr) rs769602042
NM_003119.4(SPG7):c.1955G>T (p.Arg652Met) rs1433697104
NM_003119.4(SPG7):c.1996G>A (p.Gly666Arg) rs752989523
NM_003119.4(SPG7):c.2261C>T (p.Pro754Leu) rs758721226
NM_003119.4(SPG7):c.2385G>A (p.Lys795=) rs773216042
NM_003119.4(SPG7):c.244C>T (p.Gln82Ter) rs146115797
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171

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