ClinVar Miner

List of variants in gene SPG7 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.618+12T>C rs3803679 0.45572
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.1449+19G>A rs79201073 0.07399
NM_003119.4(SPG7):c.1663+13C>T rs80324518 0.05587
NM_003119.4(SPG7):c.2292C>T (p.Ile764=) rs61747711 0.02864
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01053
NM_003119.4(SPG7):c.1937-16C>G rs74590011 0.00558
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686 0.00386
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
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.1450-16C>T rs376654147 0.00019
NM_003119.4(SPG7):c.1764G>A (p.Thr588=) rs373536584 0.00017
NM_003119.4(SPG7):c.250T>C (p.Leu84=) rs138965309 0.00011
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter) rs369227537 0.00010
NM_003119.4(SPG7):c.1053C>T (p.Pro351=) rs762689331 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.1909G>A (p.Ala637Thr) rs549735647 0.00006
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr) rs752623413 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.2096dup (p.Met699fs) rs747503698 0.00004
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter) rs774774648 0.00003
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) rs752257333 0.00001
NM_003119.4(SPG7):c.504C>T (p.Asn168=) rs151078862 0.00001
NM_003119.4(SPG7):c.601G>A (p.Val201Met) rs775545751 0.00001
NM_003119.4(SPG7):c.988-1G>A rs748309520 0.00001
NM_003119.4(SPG7):c.1053dup (p.Gly352fs) rs760818649
NM_003119.4(SPG7):c.1155C>T (p.Leu385=)
NM_003119.4(SPG7):c.1189G>C (p.Ala397Pro)
NM_003119.4(SPG7):c.1324+4143C>T
NM_003119.4(SPG7):c.1324+4208G>A
NM_003119.4(SPG7):c.1324+4224C>T
NM_003119.4(SPG7):c.1564G>A (p.Ala522Thr) rs540602203
NM_003119.4(SPG7):c.1828C>T (p.Leu610Phe)
NM_003119.4(SPG7):c.184-3C>A
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.558G>C (p.Val186=) rs754129188
NM_003119.4(SPG7):c.773_774del (p.Val258fs) rs768136171
NM_003119.4(SPG7):c.987+5A>G rs4785691

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