List of variants in gene combination APIP, LOC130005547, PDHX reported as uncertain significance for Pyruvate dehydrogenase E3-binding protein deficiency

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_015957.4(APIP):c.-18G>A	rs761199870	0.00009
NM_015957.4(APIP):c.-1C>T	rs774565620	0.00001
NM_015957.4(APIP):c.-14C>T	rs886048245
NM_015957.4(APIP):c.57+57C>G	rs988171497

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