List of variants studied for complex hereditary spastic paraplegia by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.667+5C>T	rs375485062	0.00015
NM_014844.5(TECPR2):c.622A>G (p.Thr208Ala)	rs536338550	0.00014
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs)	rs778722037	0.00003
NM_001478.5(B4GALNT1):c.682C>T (p.Arg228Ter)	rs398122382	0.00001
NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter)	rs756830713	0.00001
NM_001776.6(ENTPD1):c.392C>T (p.Thr131Met)
NM_015161.3(ARL6IP1):c.25A>G (p.Thr9Ala)
NM_015346.4(ZFYVE26):c.4024C>G (p.Arg1342Gly)	rs368778263
NM_020738.4(KIDINS220):c.4787A>G (p.Asn1596Ser)	rs2147943225
NM_025137.4(SPG11):c.6344-20A>C	rs1595824228

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