ClinVar Miner

List of variants in gene GJC2 reported as likely benign for Spastic paraplegia

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg) rs375318012 0.00116
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys) rs201277546 0.00061
NM_020435.4(GJC2):c.1090G>A (p.Ala364Thr) rs534573391 0.00058
NM_020435.4(GJC2):c.633C>T (p.Arg211=) rs981105825 0.00021
NM_020435.4(GJC2):c.993C>G (p.Pro331=) rs891962078 0.00020
NM_020435.4(GJC2):c.519C>T (p.Gly173=) rs772545343 0.00013
NM_020435.4(GJC2):c.1057C>T (p.Leu353=) rs750932850 0.00008
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) rs761261049 0.00005
NM_020435.4(GJC2):c.417C>A (p.Ala139=) rs939165968 0.00005
NM_020435.4(GJC2):c.84C>A (p.Leu28=) rs747205319 0.00005
NM_020435.4(GJC2):c.486C>T (p.Ala162=) rs1260532478 0.00004
NM_020435.4(GJC2):c.810T>G (p.Val270=) rs760412672 0.00004
NM_020435.4(GJC2):c.291C>T (p.Tyr97=) rs202209462 0.00003
NM_020435.4(GJC2):c.408T>C (p.Pro136=) rs1226490782 0.00003
NM_020435.4(GJC2):c.1158A>G (p.Arg386=) rs763695821 0.00002
NM_020435.4(GJC2):c.216G>T (p.Ala72=) rs747886769 0.00002
NM_020435.4(GJC2):c.303C>T (p.Arg101=) rs147954793 0.00001
NM_020435.4(GJC2):c.309C>T (p.Ala103=) rs746640254 0.00001
NM_020435.4(GJC2):c.453C>G (p.Gly151=) rs758276637 0.00001
NM_020435.4(GJC2):c.561G>A (p.Lys187=) rs1161650965 0.00001
NM_020435.4(GJC2):c.96G>A (p.Val32=) rs769772220 0.00001
NM_020435.4(GJC2):c.1035G>C (p.Ala345=)
NM_020435.4(GJC2):c.1050G>A (p.Leu350=)
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr) rs565574386
NM_020435.4(GJC2):c.1092T>A (p.Ala364=)
NM_020435.4(GJC2):c.1122C>T (p.Cys374=)
NM_020435.4(GJC2):c.1125C>T (p.Val375=)
NM_020435.4(GJC2):c.1128C>A (p.Gly376=)
NM_020435.4(GJC2):c.1149G>C (p.Gly383=)
NM_020435.4(GJC2):c.117G>C (p.Thr39=) rs768549431
NM_020435.4(GJC2):c.1191T>A (p.Ala397=)
NM_020435.4(GJC2):c.126C>T (p.Gly42=)
NM_020435.4(GJC2):c.175C>A (p.Arg59=)
NM_020435.4(GJC2):c.177G>T (p.Arg59=)
NM_020435.4(GJC2):c.27G>C (p.Leu9=) rs761457231
NM_020435.4(GJC2):c.282C>T (p.Tyr94=)
NM_020435.4(GJC2):c.30_31delinsAA (p.Thr10_Arg11=)
NM_020435.4(GJC2):c.357G>T (p.Gly119=)
NM_020435.4(GJC2):c.363C>G (p.Arg121=)
NM_020435.4(GJC2):c.372C>G (p.Pro124=)
NM_020435.4(GJC2):c.373C>A (p.Arg125=)
NM_020435.4(GJC2):c.393G>A (p.Pro131=)
NM_020435.4(GJC2):c.417C>G (p.Ala139=) rs939165968
NM_020435.4(GJC2):c.42G>A (p.Glu14=) rs2124965941
NM_020435.4(GJC2):c.453C>T (p.Gly151=)
NM_020435.4(GJC2):c.462G>A (p.Glu154=)
NM_020435.4(GJC2):c.51C>T (p.His17=)
NM_020435.4(GJC2):c.537T>C (p.Thr179=) rs2124966451
NM_020435.4(GJC2):c.546C>G (p.Val182=)
NM_020435.4(GJC2):c.549C>T (p.Gly183=)
NM_020435.4(GJC2):c.636G>C (p.Val212=)
NM_020435.4(GJC2):c.678C>T (p.Ala226=)
NM_020435.4(GJC2):c.765C>T (p.Asp255=) rs768752998
NM_020435.4(GJC2):c.795G>T (p.Thr265=) rs1485673013
NM_020435.4(GJC2):c.84C>T (p.Leu28=)
NM_020435.4(GJC2):c.873G>A (p.Leu291=)
NM_020435.4(GJC2):c.897C>T (p.Arg299=)
NM_020435.4(GJC2):c.960C>T (p.Phe320=)
NM_020435.4(GJC2):c.975T>G (p.Ala325=)

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