List of variants in gene FA2H reported as uncertain significance for Hereditary spastic paraplegia

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)	rs141276237	0.00053
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)	rs527421775	0.00024
NM_024306.5(FA2H):c.925G>A (p.Val309Ile)	rs150427439	0.00018
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)	rs141854925	0.00016
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)	rs199815871	0.00010
NM_024306.5(FA2H):c.599C>T (p.Thr200Met)	rs139261750	0.00004
NM_024306.5(FA2H):c.905C>T (p.Ala302Val)	rs202048141	0.00003
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg)	rs775750642	0.00002
NM_024306.5(FA2H):c.549C>T (p.Leu183=)	rs767690383	0.00001
NM_024306.5(FA2H):c.691T>C (p.Tyr231His)	rs878855081	0.00001
NM_024306.5(FA2H):c.956A>G (p.His319Arg)	rs2144601571

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