List of variants reported as uncertain significance 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.*549A>G	rs187525386	0.00126
NM_000284.4(PDHA1):c.*575T>C	rs191995452	0.00114
NM_000284.4(PDHA1):c.*1297G>A	rs778678656	0.00112
NM_000284.4(PDHA1):c.*349A>G	rs1013526559	0.00092
NM_000284.4(PDHA1):c.*432C>T	rs754719295	0.00068
NM_000284.4(PDHA1):c.*321C>T	rs886566327	0.00061
NM_000284.4(PDHA1):c.*729G>A	rs376808450	0.00033
NM_000284.4(PDHA1):c.-79C>T	rs942040058	0.00024
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)	rs1329322647	0.00023
NM_000284.4(PDHA1):c.*1306G>A	rs745566169	0.00018
NM_000284.4(PDHA1):c.*1458C>T	rs923765752	0.00016
NM_000284.4(PDHA1):c.*1347C>T	rs1241045421	0.00006
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)	rs745607005	0.00005
NM_000284.4(PDHA1):c.*1376C>T	rs963546680	0.00001
NM_000284.4(PDHA1):c.*1779A>T	rs758279534	0.00001
NM_000284.4(PDHA1):c.*1624T>C	rs2063283398
NM_000284.4(PDHA1):c.*198G>A	rs1003909173

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