ClinVar Miner

List of variants in gene FAN1 reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014967.5(FAN1):c.1851C>T (p.Ser617=) rs118060760 0.01439
NM_014967.5(FAN1):c.174G>A (p.Arg58=) rs143965941 0.00041
NM_014967.5(FAN1):c.1350G>A (p.Leu450=) rs138954416 0.00028
NM_014967.5(FAN1):c.1090A>C (p.Asn364His) rs187082481 0.00013
NM_014967.5(FAN1):c.1A>G (p.Met1Val) rs139312614 0.00004
NM_014967.5(FAN1):c.1899del (p.Cys633fs) rs761988851 0.00003
NM_014967.5(FAN1):c.877G>T (p.Val293Phe) rs747058468 0.00001
NM_014967.5(FAN1):c.1702C>T (p.Gln568Ter) rs2140913969
NM_014967.5(FAN1):c.332del (p.Pro111fs) rs2140895653
NM_014967.5(FAN1):c.922_923del (p.Val308fs) rs774499986

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