ClinVar Miner

List of variants in gene FTL reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 16
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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.250-6A>G rs370216913 0.00009
NM_000146.4(FTL):c.436G>A (p.Gly146Ser) rs111962558 0.00005
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000146.4(FTL):c.96C>T (p.Leu32=) rs1240532060 0.00001
NM_000146.4(FTL):c.-160A>G rs398124633
NM_000146.4(FTL):c.-168G>T rs398124635
NM_000146.4(FTL):c.-184C>T
NM_000146.4(FTL):c.172G>T (p.Glu58Ter) rs773435099
NM_000146.4(FTL):c.190G>A (p.Glu64Lys) rs11553225
NM_000146.4(FTL):c.193C>T (p.Arg65Cys)
NM_000146.4(FTL):c.248A>G (p.Lys83Arg)
NM_000146.4(FTL):c.361C>T (p.Arg121Cys)
NM_000146.4(FTL):c.390G>C (p.Leu130=) rs2038459087
NM_000146.4(FTL):c.92A>G (p.Tyr31Cys) rs1555796994
NM_000146.4(FTL):c.93C>T (p.Tyr31=)

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