ClinVar Miner

List of variants in gene FTL reported as benign for Huntington disease-like syndrome

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000146.4(FTL):c.522C>T (p.His174=) rs73046709 0.00184
NM_000146.4(FTL):c.*24C>T rs368083362 0.00037
NM_000146.4(FTL):c.-121C>T rs11553228 0.00031
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_000146.4(FTL):c.250-6A>G rs370216913 0.00009
NM_000146.4(FTL):c.*8C>T rs373178636 0.00005
NM_000146.4(FTL):c.103-14A>G rs769222073
NM_000146.4(FTL):c.234C>T (p.Leu78=) rs559383814

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