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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

Download table as spreadsheet

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.957G>A (p.Leu319=)	rs36047324	0.00717
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.