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

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)	rs1135402725	0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His)	rs387906998	0.00001
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)	rs113309941	0.00001
NG_013368.1:g.33923_80418delins[DQ831669.1:28435_34519]
NM_003477.2(PDHX):c.78_162del
NM_003477.3(PDHX):c.1024-1G>A	rs724159830
NM_003477.3(PDHX):c.1183-3088_1247+760del
NM_003477.3(PDHX):c.1231C>T (p.Gln411Ter)	rs758020436
NM_003477.3(PDHX):c.557del (p.Pro186fs)
NM_003477.3(PDHX):c.620del (p.Pro207fs)	rs724159979
NM_003477.3(PDHX):c.641+1G>A	rs724159829
NM_003477.3(PDHX):c.711dup (p.Thr238fs)	rs776567343
NM_003477.3(PDHX):c.88_91del (p.Lys30fs)	rs724159828
NM_003477.3(PDHX):c.965_1023del (p.Asp322fs)	rs1554989996

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