List of variants in gene FTL reported as pathogenic for Huntington disease and related disorders

Minimum submission review status:		Collection method:
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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_000146.4(FTL):c.-168G>A	rs398124635	0.00001
NM_000146.4(FTL):c.286G>A (p.Ala96Thr)	rs104894685	0.00001
NM_000146.4(FTL):c.-150C>A	rs2038438612
NM_000146.4(FTL):c.-151A>G
NM_000146.4(FTL):c.-157G>A	rs1600120873
NM_000146.4(FTL):c.-160A>G	rs398124633
NM_000146.4(FTL):c.-161C>T	rs398124636
NM_000146.4(FTL):c.-164C>A	rs398124637
NM_000146.4(FTL):c.-167C>T	rs2038438402
NM_000146.4(FTL):c.-168G>C	rs398124635
NM_000146.4(FTL):c.-168G>T	rs398124635
NM_000146.4(FTL):c.458dup (p.His153fs)	rs587776840
NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs)
NM_000146.4(FTL):c.460dup (p.Arg154fs)	rs2122436083
NM_000146.4(FTL):c.469_484dup (p.Leu162fs)	rs398124640
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)	rs2122436225
NM_000146.4(FTL):c.498_499dup (p.Phe167fs)	rs1114167274

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