ClinVar Miner

List of variants in gene SPG7 reported as likely benign for not specified

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Gene type:
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Total variants: 40
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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.1937-16C>G rs74590011 0.00558
NM_003119.4(SPG7):c.1324+4187C>T rs143254053 0.00185
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.1936+13G>A rs147242721 0.00061
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299 0.00024
NM_003119.4(SPG7):c.1450-16C>T rs376654147 0.00019
NM_003119.4(SPG7):c.2182-18T>C rs374106302 0.00019
NM_003119.4(SPG7):c.1764G>A (p.Thr588=) rs373536584 0.00017
NM_003119.4(SPG7):c.1053C>T (p.Pro351=) rs762689331 0.00009
NM_003119.4(SPG7):c.483C>T (p.Ser161=) rs144509309 0.00009
NM_003119.4(SPG7):c.2103+7C>T rs372981678 0.00008
NM_003119.4(SPG7):c.*7G>A rs766670092 0.00007
NM_003119.4(SPG7):c.1937-15G>A rs201272528 0.00007
NM_003119.4(SPG7):c.1325-6C>T rs371986686 0.00006
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr) rs549735647 0.00006
NM_003119.4(SPG7):c.516C>T (p.His172=) rs141065708 0.00006
NM_003119.4(SPG7):c.1422C>T (p.His474=) rs201482100 0.00004
NM_003119.4(SPG7):c.1553-6T>G rs778948827 0.00004
NM_003119.4(SPG7):c.2298C>G (p.Ala766=) rs61756187 0.00004
NM_003119.4(SPG7):c.1552+16G>T rs746083152 0.00003
NM_003119.4(SPG7):c.377-8C>T rs373168400 0.00003
NM_003119.4(SPG7):c.1599G>A (p.Ala533=) rs561746823 0.00002
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn) rs767820132 0.00002
NM_003119.4(SPG7):c.423G>T (p.Arg141=) rs777943597 0.00002
NM_003119.4(SPG7):c.1068G>A (p.Thr356=) rs368612689 0.00001
NM_003119.4(SPG7):c.1644C>T (p.Ala548=) rs145441974 0.00001
NM_003119.4(SPG7):c.204A>G (p.Leu68=) rs566363528 0.00001
NM_003119.4(SPG7):c.2103+8G>A rs1015822207 0.00001
NM_003119.4(SPG7):c.1014C>T (p.Gly338=) rs576575379
NM_003119.4(SPG7):c.1150+19_1150+31del rs1379023827
NM_003119.4(SPG7):c.1890G>A (p.Leu630=) rs767213993
NM_003119.4(SPG7):c.1929C>T (p.Val643=) rs746082965
NM_003119.4(SPG7):c.1953G>A (p.Leu651=) rs1057523048
NM_003119.4(SPG7):c.2178G>A (p.Gln726=) rs1175352443
NM_003119.4(SPG7):c.2311C>G (p.Gln771Glu) rs863224214
NM_003119.4(SPG7):c.377-12C>G
NM_003119.4(SPG7):c.618+15G>A rs766767456

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