List of variants studied for Hereditary spastic paraplegia 44

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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.1254_1258delinsCG (p.Lys418_Arg420delinsAsnGly)	rs1553262641
NM_020435.4(GJC2):c.550_566del (p.Ala184fs)	rs758571008

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