List of variants studied for Autosomal recessive spastic paraplegia type 76 by Paris Brain Institute, Inserm - ICM

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005186.4(CAPN1):c.1605+5G>A	rs375817528	0.00011
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs)	rs778722037	0.00003
NM_005186.4(CAPN1):c.1153C>T (p.Arg385Ter)	rs955142329	0.00001
NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter)	rs756830713	0.00001
NM_005186.4(CAPN1):c.1005G>A (p.Trp335Ter)	rs1428333006
NM_005186.4(CAPN1):c.1129_1133del (p.Arg377fs)	rs1948677308
NM_005186.4(CAPN1):c.1165+1G>A	rs781004578
NM_005186.4(CAPN1):c.1341G>C (p.Glu447Asp)	rs1471188671
NM_005186.4(CAPN1):c.1418_1419del (p.Arg473fs)	rs1948961118
NM_005186.4(CAPN1):c.1697dup (p.Leu566fs)	rs1948992593
NM_005186.4(CAPN1):c.1969G>T (p.Glu657Ter)	rs1949027966
NM_005186.4(CAPN1):c.254G>A (p.Trp85Ter)	rs1948565964
NM_005186.4(CAPN1):c.623G>A (p.Gly208Asp)	rs776839253

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