ClinVar Miner

List of variants in gene FA2H reported as likely benign for paraplegia

Included ClinVar conditions (133):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.02064
NM_024306.5(FA2H):c.*520G>A rs187456324 0.00503
NM_024306.5(FA2H):c.*958C>T rs115575599 0.00401
NM_024306.5(FA2H):c.*821C>G rs573058036 0.00299
NM_024306.5(FA2H):c.1113G>C (p.Thr371=) rs140017632 0.00191
NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro) rs200545714 0.00152
NM_024306.5(FA2H):c.*813C>T rs568964501 0.00087
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811 0.00075
NM_024306.5(FA2H):c.*783G>A rs150692675 0.00022
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_024306.5(FA2H):c.771C>T (p.His257=) rs371293493 0.00002

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