List of variants in gene PDHA1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.1066_1074dup (p.Asp356_Glu358dup)	rs2147189158
NM_000284.4(PDHA1):c.1072G>A (p.Glu358Lys)	rs2147189180
NM_000284.4(PDHA1):c.1083_1124dup (p.Pro374_Phe375insLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProPro)
NM_000284.4(PDHA1):c.476A>T (p.Asn159Ile)
NM_000284.4(PDHA1):c.624dup (p.Asn209fs)	rs2063188850
NM_000284.4(PDHA1):c.934_940dup (p.Ser314delinsLysTer)	rs606231185

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