List of variants in gene SPAST reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.1685G>A (p.Arg562Gln)	rs863224923	0.00001
NM_014946.4(SPAST):c.1738A>G (p.Ile580Val)	rs1259072587	0.00001
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly)	rs1553321245	0.00001
NM_014946.4(SPAST):c.1036G>C (p.Gly346Arg)
NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)	rs1057519181
NM_014946.4(SPAST):c.1094C>G (p.Pro365Arg)	rs1678828583
NM_014946.4(SPAST):c.1153G>T (p.Gly385Trp)	rs2148745015
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs)	rs1553317029
NM_014946.4(SPAST):c.1210_1212del (p.Phe404del)	rs1679265391
NM_014946.4(SPAST):c.1235C>T (p.Thr412Ile)
NM_014946.4(SPAST):c.1242del (p.Lys414fs)	rs1573142681
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)	rs864622162
NM_014946.4(SPAST):c.1670C>T (p.Ala557Val)	rs1057518873
NM_014946.4(SPAST):c.1710G>T (p.Lys570Asn)
NM_014946.4(SPAST):c.1775_1778del (p.Ile592fs)	rs1553321232
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)	rs145206063
NM_014946.4(SPAST):c.866_870del (p.His289fs)	rs1678765220

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