List of variants in gene PDHA1 reported as pathogenic for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter)	rs863224156
NM_000284.4(PDHA1):c.735A>C (p.Arg245Ser)	rs1555934376
NM_000284.4(PDHA1):c.832-1G>A	rs1555934843
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)	rs137853252
NM_000284.4(PDHA1):c.948_964dup (p.Asp322fs)	rs2063232730
NM_000284.4(PDHA1):c.966_970del (p.Arg323fs)

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