List of variants in gene SPAST reported as uncertain significance 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: 20

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HGVS	dbSNP	gnomAD frequency
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)	rs121908517	0.00063
NM_014946.4(SPAST):c.1735A>C (p.Asn579His)	rs144594804	0.00031
NM_014946.4(SPAST):c.1486G>A (p.Val496Ile)	rs779662872	0.00001
NM_014946.4(SPAST):c.157T>G (p.Phe53Val)	rs200029938	0.00001
NM_014946.4(SPAST):c.412A>G (p.Lys138Glu)	rs1313534781	0.00001
NM_014946.4(SPAST):c.98C>T (p.Pro33Leu)	rs777721232	0.00001
NM_014946.4(SPAST):c.1097A>T (p.Glu366Val)	rs1678828780
NM_014946.4(SPAST):c.1148C>A (p.Pro383Gln)	rs2148745001
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)	rs1679218212
NM_014946.4(SPAST):c.1184_1186dup (p.Val395_Ala396insVal)
NM_014946.4(SPAST):c.1245+5G>A	rs1553317049
NM_014946.4(SPAST):c.1501A>C (p.Ile501Leu)	rs1057519108
NM_014946.4(SPAST):c.1536+5G>T	rs1679734284
NM_014946.4(SPAST):c.1688-4A>C	rs1573174134
NM_014946.4(SPAST):c.1A>G (p.Met1Val)
NM_014946.4(SPAST):c.372C>G (p.Phe124Leu)	rs754912349
NM_014946.4(SPAST):c.586+9_586+12del	rs554544808
NM_014946.4(SPAST):c.647C>G (p.Thr216Ser)	rs374578162
NM_014946.4(SPAST):c.811G>A (p.Gly271Ser)
NM_014946.4(SPAST):c.876T>C (p.Thr292=)	rs1573120364

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