ClinVar Miner

List of variants in gene SPG7 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1324+3864T>C rs1248920221 0.02775
NM_003119.4(SPG7):c.758+294C>T rs141882852 0.02459
NM_003119.4(SPG7):c.184-300G>C rs146032762 0.01952
NM_003119.4(SPG7):c.1324+3855T>C rs1352978556 0.01880
NM_003119.4(SPG7):c.1324+3865G>C rs1302734900 0.01760
NM_003119.4(SPG7):c.1324+3884C>G rs79179680 0.01680
NM_003119.4(SPG7):c.1324+3861del rs1567918837 0.01638
NM_003119.4(SPG7):c.1324+3869T>C rs1159419332 0.01621
NM_003119.4(SPG7):c.286+148C>A rs115973339 0.01529
NM_003119.4(SPG7):c.1324+3883T>C rs1416602883 0.01405
NM_003119.4(SPG7):c.861+196C>T rs117896335 0.01380
NM_003119.4(SPG7):c.376+140C>T rs112674109 0.01373
NM_003119.4(SPG7):c.376+105G>T rs112467227 0.01372
NM_003119.4(SPG7):c.861+321T>C rs115214478 0.01364
NM_003119.4(SPG7):c.759-333G>A rs112527507 0.01341
NM_003119.4(SPG7):c.987+216A>G rs113166127 0.01324
NM_003119.4(SPG7):c.987+57C>T rs112188712 0.01277
NM_003119.4(SPG7):c.758+316A>G rs112355651 0.01221
NM_003119.4(SPG7):c.1324+3845T>C rs983550161 0.01157
NM_003119.4(SPG7):c.1324+3842_1324+3850del rs200111472 0.01141
NM_003119.4(SPG7):c.1552+50G>A rs116358196 0.01132
NM_003119.4(SPG7):c.*106A>G rs16965816 0.01111
NM_003119.4(SPG7):c.*118A>G rs113158735 0.01111
NM_003119.4(SPG7):c.*122T>C rs113515220 0.01111
NM_003119.4(SPG7):c.*195C>T rs113818240 0.01111
NM_003119.4(SPG7):c.*140G>T rs112587045 0.01110
NM_003119.4(SPG7):c.619-233C>T rs9929615 0.01099
NM_003119.4(SPG7):c.1324+4086A>G rs115070727 0.01098
NM_003119.4(SPG7):c.1937-44G>A rs115067204 0.00948
NM_003119.4(SPG7):c.1324+272A>G rs55674596 0.00947
NM_003119.4(SPG7):c.1449+84C>T rs191198001 0.00838
NM_003119.4(SPG7):c.619-228C>T rs114374156 0.00743
NM_003119.4(SPG7):c.2181+235C>G rs113929056 0.00665
NM_003119.4(SPG7):c.2181+118A>G rs111682221 0.00659
NM_003119.4(SPG7):c.987+151T>C rs114788941 0.00650
NM_003119.4(SPG7):c.1324+3861A>G rs78351666 0.00562
NM_003119.4(SPG7):c.1552+103C>T rs142649413 0.00550
NM_003119.4(SPG7):c.1780-259T>G rs139927231 0.00542
NM_003119.4(SPG7):c.286+218G>A rs146287935 0.00511
NM_003119.4(SPG7):c.1449+55C>G rs114361295 0.00505
NM_003119.4(SPG7):c.1324+302C>T rs140722005 0.00497
NM_003119.4(SPG7):c.1553-131C>G rs375322347 0.00439
NM_003119.4(SPG7):c.988-110C>T rs573458956 0.00428
NM_003119.4(SPG7):c.377-298G>A rs185698845 0.00427
NM_003119.4(SPG7):c.1324+222C>T rs144030383 0.00424
NM_003119.4(SPG7):c.988-115G>A rs149976628 0.00398
NM_003119.4(SPG7):c.2104-24del rs374488085 0.00364
NM_003119.4(SPG7):c.377-24C>T rs78628451 0.00364
NM_003119.4(SPG7):c.1663+112C>T rs182191298 0.00359
NM_003119.4(SPG7):c.287-70A>C rs201315466 0.00359
NM_003119.4(SPG7):c.2104-231C>T rs550196385 0.00351
NM_003119.4(SPG7):c.988-235T>G rs186569117 0.00335
NM_003119.4(SPG7):c.1325-302G>A rs149143391 0.00295
NM_003119.4(SPG7):c.1324+4187C>T rs143254053 0.00185
NM_003119.4(SPG7):c.1779+69G>A rs532031566 0.00164
NM_003119.4(SPG7):c.1936+13G>A rs147242721 0.00061
NM_003119.4(SPG7):c.1593C>T (p.His531=) rs61747706 0.00047
NM_003119.4(SPG7):c.318G>A (p.Leu106=) rs115601365 0.00031
NM_003119.4(SPG7):c.1937-9G>A rs371739639 0.00026
NM_003119.4(SPG7):c.1359G>A (p.Ala453=) rs115448299 0.00024
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.1197C>T (p.Ala399=) rs373627269 0.00012
NM_003119.4(SPG7):c.2250G>A (p.Pro750=) rs144039221 0.00012
NM_003119.4(SPG7):c.250T>C (p.Leu84=) rs138965309 0.00011
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.1937-15G>A rs201272528 0.00007
NM_003119.4(SPG7):c.306C>T (p.Asn102=) rs147397994 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.1553-6T>G rs778948827 0.00004
NM_003119.4(SPG7):c.1830C>T (p.Leu610=) rs746099594 0.00004
NM_003119.4(SPG7):c.2298C>G (p.Ala766=) rs61756187 0.00004
NM_003119.4(SPG7):c.2370G>A (p.Glu790=) rs936520999 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.2106A>G (p.Glu702=) rs755763500 0.00002
NM_003119.4(SPG7):c.403G>A (p.Asp135Asn) rs767820132 0.00002
NM_003119.4(SPG7):c.1068G>A (p.Thr356=) rs368612689 0.00001
NM_003119.4(SPG7):c.1587G>A (p.Ala529=) rs115743362 0.00001
NM_003119.4(SPG7):c.1638G>A (p.Glu546=) rs984343415 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.1324+185C>T rs146843515
NM_003119.4(SPG7):c.1324+3849_1324+3850insCCGGGTGAGGCGGGCGAGGCGGGCGAGGCCAGGTGAGGCGGGTGAGG rs1567918726
NM_003119.4(SPG7):c.1324+3864_1324+3867del rs1190509972
NM_003119.4(SPG7):c.1324+3878T>C rs1375985161
NM_003119.4(SPG7):c.1324+3989_1324+3997dup rs1236753175
NM_003119.4(SPG7):c.1324+4312G>T rs115675101
NM_003119.4(SPG7):c.1450-75C>A rs1023859750
NM_003119.4(SPG7):c.1553-8_1553-7del rs567981282
NM_003119.4(SPG7):c.1656C>T (p.Val552=) rs758338586
NM_003119.4(SPG7):c.1780-94C>T rs112372464
NM_003119.4(SPG7):c.184-4dup rs5818722
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.2103+95G>T rs560186519
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.2181+255C>G rs76647055
NM_003119.4(SPG7):c.2182-283G>A rs113066938
NM_003119.4(SPG7):c.2311C>G (p.Gln771Glu) rs863224214
NM_003119.4(SPG7):c.618+11_618+68del rs1555611542
NM_003119.4(SPG7):c.618+15G>A rs766767456
NM_003119.4(SPG7):c.861+313T>C rs112592929

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