List of variants reported as likely pathogenic for Pyruvate dehydrogenase E3-binding protein deficiency

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala)	rs756023441	0.00001
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)	rs1135402725	0.00001
NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del
NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del
NM_003477.3(PDHX):c.1012dup (p.Val338fs)
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)	rs1064796807
NM_003477.3(PDHX):c.557del (p.Pro186fs)
NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
NM_003477.3(PDHX):c.793dup (p.Thr265fs)	rs1057518180

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