ClinVar Miner

List of variants in gene SPG7 reported as likely benign

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Gene type:
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Total variants: 75
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HGVS dbSNP
NM_003119.4(SPG7):c.*33C>T rs60711430
NM_003119.4(SPG7):c.*490_*491CA[3] rs375330718
NM_003119.4(SPG7):c.*7G>A rs766670092
NM_003119.4(SPG7):c.1014C>T (p.Gly338=) rs576575379
NM_003119.4(SPG7):c.1053C>T (p.Pro351=)
NM_003119.4(SPG7):c.1068G>A (p.Thr356=) rs368612689
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540
NM_003119.4(SPG7):c.1150+19_1150+31del rs1379023827
NM_003119.4(SPG7):c.1197C>T (p.Ala399=) rs373627269
NM_003119.4(SPG7):c.1242C>G (p.Gly414=) rs776578314
NM_003119.4(SPG7):c.1324+10C>T rs202070075
NM_003119.4(SPG7):c.1324+3845T>C
NM_003119.4(SPG7):c.1324+3855T>C
NM_003119.4(SPG7):c.1324+3861del
NM_003119.4(SPG7):c.1324+3865G>C
NM_003119.4(SPG7):c.1324+3884C>G
NM_003119.4(SPG7):c.1324+4187C>T rs143254053
NM_003119.4(SPG7):c.1325-6C>T rs371986686
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299
NM_003119.4(SPG7):c.1422C>T (p.His474=) rs201482100
NM_003119.4(SPG7):c.144T>G (p.Pro48=) rs1286342932
NM_003119.4(SPG7):c.1450-16C>T rs376654147
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954
NM_003119.4(SPG7):c.1552+16G>T rs746083152
NM_003119.4(SPG7):c.1553-6T>G rs778948827
NM_003119.4(SPG7):c.1593C>T (p.His531=) rs61747706
NM_003119.4(SPG7):c.1644C>T (p.Ala548=) rs145441974
NM_003119.4(SPG7):c.1656C>T (p.Val552=) rs758338586
NM_003119.4(SPG7):c.1663+13C>T rs80324518
NM_003119.4(SPG7):c.1764G>A (p.Thr588=) rs373536584
NM_003119.4(SPG7):c.1830C>T (p.Leu610=) rs746099594
NM_003119.4(SPG7):c.1890G>A (p.Leu630=) rs767213993
NM_003119.4(SPG7):c.1909G>A (p.Ala637Thr) rs549735647
NM_003119.4(SPG7):c.1929C>T (p.Val643=) rs746082965
NM_003119.4(SPG7):c.1936+13G>A rs147242721
NM_003119.4(SPG7):c.1937-15G>A rs201272528
NM_003119.4(SPG7):c.1937-16C>G rs74590011
NM_003119.4(SPG7):c.1937-9G>A rs371739639
NM_003119.4(SPG7):c.1953G>A (p.Leu651=) rs1057523048
NM_003119.4(SPG7):c.204A>G (p.Leu68=) rs566363528
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960
NM_003119.4(SPG7):c.2103+7C>T rs372981678
NM_003119.4(SPG7):c.2103+8G>A rs1015822207
NM_003119.4(SPG7):c.2104-24del
NM_003119.4(SPG7):c.2142C>T (p.Thr714=) rs201878285
NM_003119.4(SPG7):c.2178G>A (p.Gln726=) rs1175352443
NM_003119.4(SPG7):c.2182-18T>C rs374106302
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032
NM_003119.4(SPG7):c.21G>A (p.Leu7=) rs753694369
NM_003119.4(SPG7):c.2250G>A (p.Pro750=) rs144039221
NM_003119.4(SPG7):c.2298C>G (p.Ala766=) rs61756187
NM_003119.4(SPG7):c.2311C>G (p.Gln771Glu) rs863224214
NM_003119.4(SPG7):c.318G>A (p.Leu106=)
NM_003119.4(SPG7):c.347C>T (p.Ser116Leu) rs149474131
NM_003119.4(SPG7):c.376+105G>T
NM_003119.4(SPG7):c.376+140C>T
NM_003119.4(SPG7):c.377-6G>A rs1555611445
NM_003119.4(SPG7):c.377-8C>T rs373168400
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn) rs767820132
NM_003119.4(SPG7):c.483C>T (p.Ser161=) rs144509309
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr) rs535030441
NM_003119.4(SPG7):c.516C>T (p.His172=) rs141065708
NM_003119.4(SPG7):c.558G>C (p.Val186=) rs754129188
NM_003119.4(SPG7):c.57T>C (p.Pro19=) rs1555608404
NM_003119.4(SPG7):c.618+11_618+68del rs1555611542
NM_003119.4(SPG7):c.618+15G>A rs766767456
NM_003119.4(SPG7):c.656T>C (p.Ile219Thr) rs114255772
NM_003119.4(SPG7):c.758+294C>T
NM_003119.4(SPG7):c.758+316A>G
NM_003119.4(SPG7):c.861+196C>T
NM_003119.4(SPG7):c.95G>A (p.Gly32Glu) rs863224216
NM_003119.4(SPG7):c.987+216A>G
NM_003119.4(SPG7):c.987+57C>T
NM_003119.4(SPG7):c.9G>T (p.Val3=) rs553241838

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