List of variants in gene GJC2 reported as uncertain significance for Hereditary spastic paraplegia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_020435.4(GJC2):c.*157G>A	rs45491398	0.05934
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	rs200334298	0.00096
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)	rs201277546	0.00061
NM_020435.4(GJC2):c.1019C>T (p.Ala340Val)	rs752282539	0.00007
NM_020435.4(GJC2):c.285G>A (p.Leu95=)	rs148764840	0.00004
NM_020435.4(GJC2):c.540G>A (p.Lys180=)	rs759727327	0.00003
NM_020435.4(GJC2):c.1209C>T (p.Val403=)	rs754261952	0.00001
NM_020435.4(GJC2):c.300C>A (p.His100Gln)	rs372240320	0.00001
NM_020435.4(GJC2):c.1191T>C (p.Ala397=)	rs1417076615
NM_020435.4(GJC2):c.174G>T (p.Thr58=)	rs757481205
NM_020435.4(GJC2):c.454GAG[8] (p.Glu158dup)	rs746050475

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