ClinVar Miner

List of variants reported as uncertain significance for Pyruvate dehydrogenase E1-alpha deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618 0.00011
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832 0.00006
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg) rs373275701 0.00002
NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys) rs1269552788 0.00001
NM_000284.4(PDHA1):c.1066G>A (p.Asp356Asn) rs770669838 0.00001
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile) rs755945768 0.00001
NC_000023.10:g.(?_19368035)_(19377771_?)dup
NM_000284.4(PDHA1):c.1008+4C>T
NM_000284.4(PDHA1):c.1010A>C (p.Glu337Ala)
NM_000284.4(PDHA1):c.1021G>C (p.Glu341Gln)
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg) rs1244401639
NM_000284.4(PDHA1):c.1035G>T (p.Glu345Asp)
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) rs1602233040
NM_000284.4(PDHA1):c.1144C>A (p.Gln382Lys)
NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)
NM_000284.4(PDHA1):c.239A>C (p.Gln80Pro)
NM_000284.4(PDHA1):c.335_349del (p.Asp112_Thr116del)
NM_000284.4(PDHA1):c.397G>A (p.Glu133Lys)
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.47C>T (p.Ser16Phe)
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met) rs2063182775
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val) rs2147179733
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro) rs1555934165
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys) rs2147179754
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val) rs863224145
NM_000284.4(PDHA1):c.734G>C (p.Arg245Thr)
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
NM_000284.4(PDHA1):c.784G>T (p.Val262Phe)
NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)
NM_000284.4(PDHA1):c.832-6T>C rs2063212957
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.900-12_936dup
NM_000284.4(PDHA1):c.953T>A (p.Met318Lys)
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup) rs2063233021
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)

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