ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E3-binding protein deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003477.3(PDHX):c.160+15C>G rs187304189 0.00501
NM_003477.3(PDHX):c.589C>A (p.Leu197Met) rs139052284 0.00111
NM_003477.3(PDHX):c.242-17C>T rs188930453 0.00040
NM_003477.3(PDHX):c.1034A>T (p.Asp345Val) rs556425857 0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998 0.00001
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter) rs1064796807

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