List of variants in gene combination DLAT, PIH1D2 reported as uncertain significance for Pyruvate dehydrogenase E2 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001931.5(DLAT):c.1547G>T (p.Ser516Ile)	rs782629889	0.00004
NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn)	rs113521778	0.00001
NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly)	rs147456178	0.00001
NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln)	rs1864460439	0.00001
NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys)	rs1864460815	0.00001
NM_001931.5(DLAT):c.1677+4G>C	rs782793536	0.00001
NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala)	rs2135156193
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)
NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser)	rs1566642089
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)	rs782810132
NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)
NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)
NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp)	rs1864595330
NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)
NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)

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