ClinVar Miner

List of variants in gene combination LOC130005549, PDHX reported as likely benign for Pyruvate dehydrogenase E3-binding protein deficiency

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.160+15C>G	rs187304189	0.00501
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser)	rs118136428	0.00131

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