List of variants reported as likely 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: 15

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HGVS	dbSNP	gnomAD frequency
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.798A>G (p.Thr266=)	rs35752213	0.00170
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)	rs141862527	0.00077
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)	rs1329322647	0.00023
NM_000284.4(PDHA1):c.984T>C (p.Asn328=)	rs767503319	0.00010
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)	rs199879809	0.00009
NM_000284.4(PDHA1):c.693G>A (p.Thr231=)	rs138237215	0.00005
NM_000284.4(PDHA1):c.759+10C>G	rs375488072	0.00005
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)	rs759331650	0.00004
NM_000284.4(PDHA1):c.759+9A>G	rs2643456	0.00002
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=)	rs147510382	0.00001
NM_000925.4(PDHB):c.417T>C (p.Pro139=)	rs762644804	0.00001
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer)	rs1555935577
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa)	rs762505127

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