List of variants studied for hereditary spastic paraplegia by Institute of Human Genetics, University of Goettingen

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001244008.2(KIF1A):c.3286C>T (p.Arg1096Cys)	rs745556410	0.00005
NM_001199753.2(CPT1C):c.1064C>T (p.Pro355Leu)	rs1384468076	0.00001
NM_004722.4(AP4M1):c.142del (p.Val48fs)	rs764326593	0.00001
NM_004820.5(CYP7B1):c.1061G>A (p.Ser354Asn)	rs753708048	0.00001
NM_014946.4(SPAST):c.1738A>G (p.Ile580Val)	rs1259072587	0.00001
NM_001199753.2(CPT1C):c.2T>G (p.Met1Arg)	rs751933977
NM_003119.4(SPG7):c.1543G>C (p.Gly515Arg)	rs972175989
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)	rs373143136
NM_004722.4(AP4M1):c.498del (p.Ser167fs)	rs766513025
NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro)	rs1131692233
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu)	rs1443578852
NM_014946.4(SPAST):c.314del (p.Pro105fs)	rs2148685718
NM_015346.4(ZFYVE26):c.2639T>C (p.Leu880Pro)	rs2039789225
NM_020738.4(KIDINS220):c.4412delinsAAG (p.Ser1471Ter)
NM_024306.5(FA2H):c.115_121del (p.Phe39fs)	rs2144672568
NM_024306.5(FA2H):c.821C>A (p.Pro274His)	rs1263931890
NM_144599.5(NIPA1):c.179-5T>C	rs774341557

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