ClinVar Miner

List of variants reported as likely pathogenic 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: 45
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.120G>A (p.Gly40=) rs187330648 0.00779
NM_003119.4(SPG7):c.2014G>A (p.Gly672Arg) rs369503365 0.00004
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) rs537421502 0.00001
NM_003119.4(SPG7):c.1702C>T (p.Gln568Ter) rs946925151 0.00001
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr) rs2058661391 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu) rs879253797 0.00001
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter) rs370777371 0.00001
NM_003119.2:c.183+1_1449+1del
NM_003119.4(SPG7):c.1038_1039insT (p.Leu347fs)
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.1449+1_1779+1del
NM_003119.4(SPG7):c.1452_1462del (p.Glu484fs)
NM_003119.4(SPG7):c.1454_1482del (p.Arg485fs)
NM_003119.4(SPG7):c.1641C>A (p.Tyr547Ter)
NM_003119.4(SPG7):c.1671del (p.Lys559fs)
NM_003119.4(SPG7):c.1676del (p.Lys559fs)
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1756G>T (p.Glu586Ter)
NM_003119.4(SPG7):c.1779+1G>T
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) rs368541637
NM_003119.4(SPG7):c.1940C>A (p.Ala647Glu) rs776380988
NM_003119.4(SPG7):c.1998del (p.Met667fs) rs2058661636
NM_003119.4(SPG7):c.1A>T (p.Met1Leu)
NM_003119.4(SPG7):c.2075G>C (p.Ser692Thr) rs121918357
NM_003119.4(SPG7):c.2164del (p.Leu722fs)
NM_003119.4(SPG7):c.2181+2dup
NM_003119.4(SPG7):c.2215_2217delinsTAG (p.Asn739Ter)
NM_003119.4(SPG7):c.273_274del (p.Trp92fs)
NM_003119.4(SPG7):c.292_295del (p.Thr98fs)
NM_003119.4(SPG7):c.335_336insTA (p.Glu112fs)
NM_003119.4(SPG7):c.3G>A (p.Met1Ile)
NM_003119.4(SPG7):c.535G>T (p.Glu179Ter)
NM_003119.4(SPG7):c.654del (p.Asn218fs)
NM_003119.4(SPG7):c.694del (p.Glu232fs)
NM_003119.4(SPG7):c.784del (p.Ala262fs)
NM_003119.4(SPG7):c.79_80insTG (p.Pro27fs)
NM_003119.4(SPG7):c.851T>C (p.Phe284Ser)
NM_003119.4(SPG7):c.851del (p.Phe284fs)
NM_003119.4(SPG7):c.958G>T (p.Glu320Ter)
NM_003119.4(SPG7):c.976_987+3del rs878854606
NM_003119.4(SPG7):c.988-42_1046del

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