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1.

rs10465407 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,T [Show Flanks]
    Chromosome:
    X:130349250 (GRCh38)
    X:129483224 (GRCh37)
    Canonical SPDI:
    NC_000023.11:130349249:G:A,NC_000023.11:130349249:G:T
    Gene:
    SLC25A14 (Varview)
    Functional Consequence:
    splice_acceptor_variant
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    A=0./0 (ALFA)
    T=0.000001/1 (GnomAD_exomes)
    HGVS:

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