List of variants in gene PDHA1 reported as likely benign by GeneDx

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

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.58-84C>T	rs140575255	0.02586
NM_000284.4(PDHA1):c.900-265T>C	rs141480332	0.01556
NM_000284.4(PDHA1):c.57+289T>C	rs73453457	0.01307
NC_000023.11:g.19343829T>C	rs187972638	0.01175
NM_000284.4(PDHA1):c.292-304T>A	rs7055605	0.01113
NM_000284.4(PDHA1):c.510+187C>T	rs139638187	0.01098
NM_000284.4(PDHA1):c.900-283G>A	rs138892389	0.00911
NM_000284.4(PDHA1):c.900-163C>T	rs150842150	0.00860
NM_000284.4(PDHA1):c.832-118A>G	rs147808168	0.00691
NM_000284.4(PDHA1):c.57+2160G>A	rs149807759	0.00422
NM_000284.4(PDHA1):c.291+74C>T	rs73453465	0.00277
NM_000284.4(PDHA1):c.292-59C>T	rs186854596	0.00238
NM_000284.4(PDHA1):c.511-54G>A	rs181933291	0.00184
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)	rs141862527	0.00077
NM_000284.4(PDHA1):c.97G>C (p.Asp33His)	rs150318528	0.00061
NM_000284.4(PDHA1):c.252G>A (p.Gln84=)	rs144828838	0.00032
NM_000284.4(PDHA1):c.117+19T>A	rs373859720	0.00026
NM_000284.4(PDHA1):c.396A>C (p.Arg132=)	rs757654963	0.00026
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)	rs202166915	0.00018
NM_000284.4(PDHA1):c.292-5C>T	rs191666624	0.00013
NM_000284.4(PDHA1):c.363C>T (p.His121=)	rs183170654	0.00012
NM_000284.4(PDHA1):c.118-17A>G	rs749601456	0.00009
NM_000284.4(PDHA1):c.693G>A (p.Thr231=)	rs138237215	0.00005
NM_000284.4(PDHA1):c.-23G>C	rs773557576	0.00002
NM_000284.4(PDHA1):c.900-10C>A	rs370163447	0.00001
NM_000284.4(PDHA1):c.900-17C>T	rs1196796985	0.00001
NM_000284.4(PDHA1):c.10_12del	rs752082232
NM_000284.4(PDHA1):c.1008+117ATAGTTCC[4]	rs761758246
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer)	rs1555935577
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)	rs762505127
NM_000284.4(PDHA1):c.147C>T (p.Gly49=)	rs1555933449
NM_000284.4(PDHA1):c.456G>A (p.Ser152=)	rs1358837850
NM_000284.4(PDHA1):c.57+2410dup	rs754393427
NM_000284.4(PDHA1):c.759+26GGCCAA[4]	rs11278403
NM_000284.4(PDHA1):c.861C>T (p.Tyr287=)	rs1057521179
NM_000284.4(PDHA1):c.900-85_900-67dup	rs369951816

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