ClinVar Miner

List of variants in gene PDP1 studied for Pyruvate dehydrogenase phosphatase deficiency

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_018444.4(PDP1):c.*36T>C rs4735258 0.42976
NM_018444.4(PDP1):c.*1649_*1650insG rs886063184 0.00099
NM_018444.4(PDP1):c.202G>A (p.Gly68Arg) rs374758737 0.00005
NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg) rs749767366 0.00002
NM_018444.4(PDP1):c.*1661del rs60316663
NM_018444.4(PDP1):c.*724del rs886063179
NM_018444.4(PDP1):c.*898CTT[1] rs756226872
NM_018444.4(PDP1):c.277G>T (p.Glu93Ter) rs267606938
NM_018444.4(PDP1):c.500dup (p.Leu167fs) rs1810312864
NM_018444.4(PDP1):c.851_853del (p.Leu284del) rs1554572756

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