ClinVar Miner

List of variants reported as likely pathogenic for Pyruvate dehydrogenase E1-alpha deficiency by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001135024.2(PDHX):c.-48del	rs1158194122	0.00003
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs)	rs1569190422
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs)	rs1569191879

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