List of variants reported as benign for Pyruvate dehydrogenase complex deficiency by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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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.844A>C (p.Met282Leu)	rs2229137	0.00715
NM_000925.4(PDHB):c.132T>C (p.Asp44=)	rs11542399	0.00216
NM_000284.4(PDHA1):c.*110C>T	rs709610
NM_000284.4(PDHA1):c.759+26GGCCAA[2]	rs11278403

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