ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 7 by PROSPAX: an integrated multimodal progression chart in spastic ataxias, Center for Neurology; Hertie-Institute for Clinical Brain Research

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Total variants: 66
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HGVS dbSNP gnomAD frequency
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.1715C>T (p.Ala572Val) rs72547551 0.00015
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 0.00006
NM_003119.4(SPG7):c.1807G>A (p.Ala603Thr) rs370852816 0.00004
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg) rs369503365 0.00004
NM_003119.4(SPG7):c.1552+1G>T rs141644720 0.00003
NM_003119.4(SPG7):c.1553-2_1553-1del rs772828460 0.00003
NM_003119.4(SPG7):c.878C>T (p.Ala293Val) rs201723702 0.00003
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) rs537421502 0.00001
NM_003119.4(SPG7):c.1369C>T (p.Arg457Ter) rs138671904 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr) rs2058661391 0.00001
NM_003119.4(SPG7):c.1996G>C (p.Gly666Arg) rs752989523 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_003119.4(SPG7):c.2181G>A (p.Ala727=) rs753423781 0.00001
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu) rs879253797 0.00001
NM_003119.4(SPG7):c.376+1G>T rs746053679 0.00001
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter) rs764791523 0.00001
NM_003119.4(SPG7):c.861+1G>C rs1412575396 0.00001
NM_003119.4(SPG7):c.988-1G>A rs748309520 0.00001
NM_003119.4(SPG7):c.1049_1077del (p.Pro350fs) rs775364547
NM_003119.4(SPG7):c.1053del (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1075G>C (p.Ala359Pro) rs1031614168
NM_003119.4(SPG7):c.1075dup (p.Ala359fs)
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1310T>C (p.Leu437Pro)
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr) rs1567926386
NM_003119.4(SPG7):c.1433_1441del (p.Asp478_Thr481delinsAla)
NM_003119.4(SPG7):c.1450-1_1457del rs768823392
NM_003119.4(SPG7):c.1454_1482del (p.Arg485fs)
NM_003119.4(SPG7):c.1508C>T (p.Thr503Ile)
NM_003119.4(SPG7):c.1617del (p.Val540fs) rs762795756
NM_003119.4(SPG7):c.1641C>A (p.Tyr547Ter)
NM_003119.4(SPG7):c.1671del (p.Lys559fs)
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1745G>T (p.Gly582Val)
NM_003119.4(SPG7):c.1749G>C (p.Trp583Cys) rs267607085
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met) rs778387199
NM_003119.4(SPG7):c.1779+1G>T
NM_003119.4(SPG7):c.183+1_184-1del
NM_003119.4(SPG7):c.1861C>T (p.Gln621Ter) rs769258044
NM_003119.4(SPG7):c.1879T>C (p.Cys627Arg)
NM_003119.4(SPG7):c.1940C>A (p.Ala647Glu) rs776380988
NM_003119.4(SPG7):c.1A>C (p.Met1Leu)
NM_003119.4(SPG7):c.2074A>G (p.Ser692Gly)
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) rs121918357
NM_003119.4(SPG7):c.2096T>C (p.Met699Thr)
NM_003119.4(SPG7):c.2104-2A>G rs1567934754
NM_003119.4(SPG7):c.2115_2131del (p.Leu706fs) rs748255454
NM_003119.4(SPG7):c.2163C>G (p.Asn721Lys)
NM_003119.4(SPG7):c.2216dup (p.Asn739fs) rs763126378
NM_003119.4(SPG7):c.273_274del (p.Trp92fs)
NM_003119.4(SPG7):c.292_295del (p.Thr98fs)
NM_003119.4(SPG7):c.535G>T (p.Glu179Ter)
NM_003119.4(SPG7):c.538G>A (p.Val180Met)
NM_003119.4(SPG7):c.654del (p.Asn218fs)
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003119.4(SPG7):c.784del (p.Ala262fs)
NM_003119.4(SPG7):c.861dup (p.Asn288Ter) rs797046003
NM_003119.4(SPG7):c.862-3C>T
NM_003119.4(SPG7):c.976_987+3del rs878854606
Single allele

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