List of variants reported as benign for Pyruvate dehydrogenase E1-alpha deficiency by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)	rs1126565	0.28594
NM_000284.4(PDHA1):c.*1394C>T	rs55856360	0.22991
NM_000284.4(PDHA1):c.760-15C>A	rs7058209	0.22904
NM_000284.4(PDHA1):c.*1059G>A	rs15816	0.22867
NM_000284.4(PDHA1):c.*844A>G	rs1042453	0.22833
NM_000284.4(PDHA1):c.*728C>T	rs1042452	0.22767
NM_000284.4(PDHA1):c.*319G>T	rs1042449	0.22677
NM_000284.4(PDHA1):c.*322G>A	rs1042450	0.22629
NM_000284.4(PDHA1):c.*1377G>A	rs56039350	0.20892
NM_000284.4(PDHA1):c.*614G>T	rs5955761	0.06313
NM_000284.4(PDHA1):c.*1598G>C	rs11094770	0.06012
NM_000284.4(PDHA1):c.-88G>A	rs5955751	0.03606
NM_000284.4(PDHA1):c.*392G>A	rs56318063	0.02182
NM_000284.4(PDHA1):c.*1563C>G	rs7883708	0.01025
NM_000284.4(PDHA1):c.*1682T>C	rs55744630	0.00998
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)	rs2229137	0.00715
NM_000284.4(PDHA1):c.*1869G>C	rs15943	0.00434
NM_000284.4(PDHA1):c.831+15C>T	rs190157093	0.00379
NM_000284.4(PDHA1):c.*1208A>C	rs369499936	0.00252
NM_000284.4(PDHA1):c.*857A>G	rs182836908	0.00208
NM_000284.4(PDHA1):c.*864G>A	rs192450087	0.00203
NM_000284.4(PDHA1):c.-98C>T	rs192773464	0.00187
NM_000284.4(PDHA1):c.*1345A>G	rs193253848	0.00110
NM_000284.4(PDHA1):c.97G>C (p.Asp33His)	rs150318528	0.00061
NM_000284.4(PDHA1):c.604-10C>T	rs201754585	0.00058
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile)	rs202166915	0.00018
NM_000284.4(PDHA1):c.*707G>A	rs150945967	0.00012
NM_000284.4(PDHA1):c.*1450C>T	rs747229060	0.00011
NM_000284.4(PDHA1):c.291+12G>A	rs755244308	0.00004
NM_000284.4(PDHA1):c.*1013C>A	rs1042456
NM_000284.4(PDHA1):c.*110C>T	rs709610
NM_000284.4(PDHA1):c.*525C>G	rs778207227

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