ClinVar Miner

List of variants in gene SPG7 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 97
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HGVS dbSNP gnomAD frequency
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.1324+4187C>T rs143254053 0.00185
NM_003119.4(SPG7):c.2182-795C>G rs548952339 0.00144
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
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.1593C>T (p.His531=) rs61747706 0.00047
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser) rs201543030 0.00024
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.782C>T (p.Thr261Met) rs370949294 0.00014
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) rs748600162 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.454A>G (p.Met152Val) rs146186857 0.00009
NM_003119.4(SPG7):c.2058C>T (p.Ile686=) rs776262023 0.00008
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.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003119.4(SPG7):c.1728G>A (p.Ser576=) rs369686424 0.00005
NM_003119.4(SPG7):c.1830C>T (p.Leu610=) rs746099594 0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00004
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003119.4(SPG7):c.1553-2A>G rs1229749476 0.00003
NM_003119.4(SPG7):c.347C>T (p.Ser116Leu) rs149474131 0.00003
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter) rs1373388852 0.00002
NM_003119.4(SPG7):c.1599G>A (p.Ala533=) rs561746823 0.00002
NM_003119.4(SPG7):c.1618G>A (p.Val540Met) rs149437163 0.00002
NM_003119.4(SPG7):c.313A>T (p.Arg105Trp) rs374082677 0.00002
NM_003119.4(SPG7):c.388C>T (p.Arg130Cys) rs863224217 0.00002
NM_003119.4(SPG7):c.1015G>A (p.Ala339Thr) rs753406143 0.00001
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) rs537421502 0.00001
NM_003119.4(SPG7):c.1635C>T (p.Phe545=) rs770394077 0.00001
NM_003119.4(SPG7):c.1675A>T (p.Lys559Ter) rs372981030 0.00001
NM_003119.4(SPG7):c.1929C>A (p.Val643=) rs746082965 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys) rs774326531 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) rs370777371 0.00001
NM_003119.4(SPG7):c.614G>A (p.Arg205Gln) rs760639086 0.00001
NM_003119.4(SPG7):c.861+5G>A rs757333854 0.00001
NM_003119.4(SPG7):c.930C>T (p.Asp310=) rs779449885 0.00001
NM_003119.4(SPG7):c.1016C>G (p.Ala339Gly)
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1063A>T (p.Lys355Ter)
NM_003119.4(SPG7):c.1135G>A (p.Val379Met) rs766085257
NM_003119.4(SPG7):c.1193G>T (p.Arg398Leu) rs771782004
NM_003119.4(SPG7):c.1284G>C (p.Glu428Asp) rs12921797
NM_003119.4(SPG7):c.1296G>A (p.Thr432=)
NM_003119.4(SPG7):c.1324+4321A>G
NM_003119.4(SPG7):c.1324+4A>T rs1328072877
NM_003119.4(SPG7):c.1327A>G (p.Met443Val) rs1597653882
NM_003119.4(SPG7):c.1350C>A (p.Ile450=)
NM_003119.4(SPG7):c.1435C>T (p.Leu479Phe) rs1064797213
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) rs376713807
NM_003119.4(SPG7):c.1443G>A (p.Thr481=)
NM_003119.4(SPG7):c.1449+5G>C rs1064797214
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.1476C>G (p.His492Gln)
NM_003119.4(SPG7):c.1522C>T (p.Arg508Cys)
NM_003119.4(SPG7):c.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.1652G>A (p.Arg551His)
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.1781T>C (p.Val594Ala) rs2152411842
NM_003119.4(SPG7):c.1884G>A (p.Met628Ile) rs1567933638
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) rs368541637
NM_003119.4(SPG7):c.1961T>C (p.Val654Ala) rs1567934232
NM_003119.4(SPG7):c.197G>A (p.Arg66Lys)
NM_003119.4(SPG7):c.1998del (p.Met667fs) rs2058661636
NM_003119.4(SPG7):c.2010C>T (p.Gly670=)
NM_003119.4(SPG7):c.210T>A (p.Pro70=)
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454
NM_003119.4(SPG7):c.2180C>T (p.Ala727Val) rs760043860
NM_003119.4(SPG7):c.2182-831G>A
NM_003119.4(SPG7):c.2182-869G>C
NM_003119.4(SPG7):c.2182-881A>G
NM_003119.4(SPG7):c.2185G>C (p.Ala729Pro)
NM_003119.4(SPG7):c.2216dup (p.Asn739fs) rs763126378
NM_003119.4(SPG7):c.222G>T (p.Gly74=) rs758816368
NM_003119.4(SPG7):c.2271G>A (p.Met757Ile) rs1320393672
NM_003119.4(SPG7):c.297C>A (p.Phe99Leu) rs1053348858
NM_003119.4(SPG7):c.348G>A (p.Ser116=)
NM_003119.4(SPG7):c.421C>T (p.Arg141Trp)
NM_003119.4(SPG7):c.444C>T (p.Ile148=) rs769553124
NM_003119.4(SPG7):c.597A>C (p.Gly199=)
NM_003119.4(SPG7):c.618+11_618+68del rs1555611542
NM_003119.4(SPG7):c.632T>C (p.Met211Thr)
NM_003119.4(SPG7):c.818G>A (p.Arg273His) rs770339981
NM_003119.4(SPG7):c.861+8C>G

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