List of variants in gene GJC2 studied for complex 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
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020435.4(GJC2):c.108C>T (p.Ile36=)	rs75469429	0.01203
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	rs200334298	0.00096
NM_020435.4(GJC2):c.108C>G (p.Ile36Met)	rs75469429
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs)	rs1571908452
NM_020435.4(GJC2):c.1141_1151del (p.Ser381fs)	rs2124967068
NM_020435.4(GJC2):c.1162G>C (p.Gly388Arg)
NM_020435.4(GJC2):c.1254_1258delinsCG (p.Lys418_Arg420delinsAsnGly)	rs1553262641
NM_020435.4(GJC2):c.184G>C (p.Gly62Arg)
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del)	rs779077705
NM_020435.4(GJC2):c.550_566del (p.Ala184fs)	rs758571008

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.