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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.*114A>G	rs76663700	0.00931
NM_003477.3(PDHX):c.160+15C>G	rs187304189	0.00501
NM_003477.3(PDHX):c.474G>A (p.Glu158=)	rs148723565	0.00243
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)	rs118136428	0.00131
NM_003477.3(PDHX):c.242-17C>T	rs188930453	0.00040
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val)	rs147948716	0.00021
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg)	rs765182974	0.00011
NM_015957.4(APIP):c.-30T>C	rs567329509	0.00006
NM_003477.2(PDHX):c.-208C>T	rs555380381
NM_003477.3(PDHX):c.*904G>T	rs182283782
NM_015957.4(APIP):c.57+91G>T	rs561463212

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