List of variants reported as benign for Pyruvate dehydrogenase E3-binding protein deficiency by Illumina Laboratory Services, Illumina

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Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.*644C>A	rs7808	0.80809
NM_003477.3(PDHX):c.63C>T (p.Pro21=)	rs2956109	0.78720
NM_015957.4(APIP):c.-70T>C	rs2956112	0.78475
NM_003477.3(PDHX):c.*486G>T	rs9326	0.64744
NM_003477.3(PDHX):c.858T>C (p.Val286=)	rs497582	0.59662
NM_003477.2(PDHX):c.-88C>A	rs2956110	0.59089
NM_003477.2(PDHX):c.-272G>A	rs2956111	0.36407
NM_015957.4(APIP):c.19C>T (p.Arg7Trp)	rs2956114	0.34353
NM_003477.2(PDHX):c.-129C>T	rs112032820	0.22090
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala)	rs11539202	0.21800
NM_003477.2(PDHX):c.-202A>G	rs113073242	0.19613
NM_015957.4(APIP):c.57+77C>T	rs16926448	0.19609
NM_003477.3(PDHX):c.108T>C (p.Ser36=)	rs1049307	0.19592
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)	rs1049306	0.19588
NM_003477.2(PDHX):c.-124G>C	rs375130125	0.18392
NM_003477.3(PDHX):c.-4C>G	rs3818401	0.12767
NM_003477.3(PDHX):c.798T>C (p.Pro266=)	rs61760973	0.10477
NM_003477.3(PDHX):c.*173G>A	rs75863418	0.05112
NM_003477.3(PDHX):c.*200T>C	rs16926653	0.05109
NM_003477.3(PDHX):c.339C>T (p.Ile113=)	rs34582941	0.05105
NM_003477.3(PDHX):c.241+3G>A	rs78878052	0.04995
NM_003477.3(PDHX):c.*890T>C	rs1049333	0.04989
NM_003477.3(PDHX):c.641+4T>C	rs2767035	0.02645
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)	rs11539201	0.02438
NM_003477.3(PDHX):c.507C>T (p.Ile169=)	rs79170416	0.02292
NM_003477.3(PDHX):c.531C>T (p.Pro177=)	rs76486106	0.01781
NM_003477.3(PDHX):c.438C>T (p.Asp146=)	rs75182779	0.01749
NM_003477.3(PDHX):c.*123A>G	rs59918794	0.01748
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)	rs35560997	0.00574
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys)	rs34398018	0.00536
NM_003477.3(PDHX):c.*27A>C	rs74524673	0.00299
NM_003477.3(PDHX):c.-23C>A	rs201033364	0.00068
NM_003477.3(PDHX):c.1188A>G (p.Leu396=)	rs200434738	0.00004
NM_015957.4(APIP):c.-53C>T	rs2956113
NM_015957.4(APIP):c.57+78A>G	rs2016814

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