ClinVar Miner

List of variants in gene SPG7 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1933T>A (p.Ser645Thr) rs2099104 0.00073
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr) rs140769107 0.00061
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser) rs201543030 0.00024
NM_003119.4(SPG7):c.782C>T (p.Thr261Met) rs370949294 0.00014
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) rs748600162 0.00011
NM_003119.4(SPG7):c.638G>A (p.Arg213Gln) rs147673636 0.00010
NM_003119.4(SPG7):c.454A>G (p.Met152Val) rs146186857 0.00009
NM_003119.4(SPG7):c.1611C>G (p.His537Gln) rs139952725 0.00006
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00004
NM_003119.4(SPG7):c.347C>T (p.Ser116Leu) rs149474131 0.00003
NM_003119.4(SPG7):c.1599G>A (p.Ala533=) rs561746823 0.00002
NM_003119.4(SPG7):c.1618G>A (p.Val540Met) rs149437163 0.00002
NM_003119.4(SPG7):c.313A>T (p.Arg105Trp) rs374082677 0.00002
NM_003119.4(SPG7):c.388C>T (p.Arg130Cys) rs863224217 0.00002
NM_003119.4(SPG7):c.1015G>A (p.Ala339Thr) rs753406143 0.00001
NM_003119.4(SPG7):c.1929C>A (p.Val643=) rs746082965 0.00001
NM_003119.4(SPG7):c.373G>A (p.Glu125Lys) rs774326531 0.00001
NM_003119.4(SPG7):c.614G>A (p.Arg205Gln) rs760639086 0.00001
NM_003119.4(SPG7):c.861+5G>A rs757333854 0.00001
NM_003119.4(SPG7):c.1016C>G (p.Ala339Gly)
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.1135G>A (p.Val379Met) rs766085257
NM_003119.4(SPG7):c.1193G>T (p.Arg398Leu) rs771782004
NM_003119.4(SPG7):c.1284G>C (p.Glu428Asp) rs12921797
NM_003119.4(SPG7):c.1324+4A>T rs1328072877
NM_003119.4(SPG7):c.1327A>G (p.Met443Val) rs1597653882
NM_003119.4(SPG7):c.1435C>T (p.Leu479Phe) rs1064797213
NM_003119.4(SPG7):c.1442C>T (p.Thr481Met) rs376713807
NM_003119.4(SPG7):c.1449+5G>C rs1064797214
NM_003119.4(SPG7):c.1652G>A (p.Arg551His)
NM_003119.4(SPG7):c.1781T>C (p.Val594Ala) rs2152411842
NM_003119.4(SPG7):c.1884G>A (p.Met628Ile) rs1567933638
NM_003119.4(SPG7):c.1961T>C (p.Val654Ala) rs1567934232
NM_003119.4(SPG7):c.2180C>T (p.Ala727Val) rs760043860
NM_003119.4(SPG7):c.2182-831G>A
NM_003119.4(SPG7):c.222G>T (p.Gly74=) rs758816368
NM_003119.4(SPG7):c.2271G>A (p.Met757Ile) rs1320393672
NM_003119.4(SPG7):c.297C>A (p.Phe99Leu) rs1053348858
NM_003119.4(SPG7):c.444C>T (p.Ile148=) rs769553124
NM_003119.4(SPG7):c.632T>C (p.Met211Thr)
NM_003119.4(SPG7):c.818G>A (p.Arg273His) rs770339981
NM_003119.4(SPG7):c.861+8C>G

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