List of variants reported as likely pathogenic for amino acid metabolism disease by Caldovic Lab, Children's National Health System

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_153006.3(NAGS):c.427-222G>A	rs2049072767	0.00001
NM_000531.5(OTC):c.-106C>A	rs749748052
NM_000531.5(OTC):c.-115C>T	rs1555971008
NM_000531.5(OTC):c.-116C>T	rs1555971006
NM_000531.5(OTC):c.-139A>G	rs1555971001
NM_000531.5(OTC):c.-142G>A	rs1555971000
NM_000531.5(OTC):c.-157T>G	rs1555970997
NM_004160.6(PYY):c.-463+2792T>A	rs2143971140
NM_004160.6(PYY):c.-463+2825G>A	rs2143971053
NM_153006.3(NAGS):c.427-218A>G	rs886507459

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