List of variants in gene DLD reported as uncertain significance for Pyruvate dehydrogenase complex deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_000108.5(DLD):c.*1145A>T	rs143750422	0.00638
NM_000108.5(DLD):c.543A>T (p.Ile181=)	rs61749952	0.00461
NM_000108.5(DLD):c.*1422C>T	rs568479120	0.00265
NM_000108.5(DLD):c.*1640A>G	rs148148357	0.00209
NM_000108.5(DLD):c.788G>A (p.Arg263His)	rs145670503	0.00080
NM_000108.5(DLD):c.*1307C>T	rs568807016	0.00052
NM_000108.5(DLD):c.1791_1794del	rs760145994	0.00046
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)	rs138002793	0.00045
NM_000108.5(DLD):c.*1857A>C	rs774099916	0.00040
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)	rs144038427	0.00039
NM_000108.5(DLD):c.763A>C (p.Met255Leu)	rs533405046	0.00029
NM_000108.5(DLD):c.*1736T>C	rs190655078	0.00025
NM_000108.5(DLD):c.*845G>A	rs750426584	0.00024
NM_000108.5(DLD):c.321A>G (p.Ala107=)	rs138398782	0.00022
NM_000108.5(DLD):c.*1092C>T	rs546777301	0.00020
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)	rs202125745	0.00016
NM_000108.5(DLD):c.*739G>A	rs181103944	0.00014
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)	rs61749951	0.00014
NM_000108.5(DLD):c.-8G>T	rs372155330	0.00013
NM_000108.5(DLD):c.*1877A>G	rs182010485	0.00009
NM_000108.5(DLD):c.*1505C>T	rs1053262850	0.00007
NM_000108.5(DLD):c.*1876G>A	rs142001971	0.00004
NM_000108.5(DLD):c.*355A>G	rs886061910	0.00002
NM_000108.5(DLD):c.1503G>A (p.Ala501=)	rs766286119	0.00002
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)	rs967089304	0.00002
NM_000108.5(DLD):c.677T>C (p.Val226Ala)	rs750449027	0.00002
NM_000108.5(DLD):c.*1401G>T	rs1266926415	0.00001
NM_000108.5(DLD):c.*1724C>G	rs886061913	0.00001
NM_000108.5(DLD):c.*225C>T	rs553824101	0.00001
NM_000108.5(DLD):c.*394A>G	rs1246423607	0.00001
NM_000108.5(DLD):c.116C>T (p.Pro39Leu)	rs766396602	0.00001
NM_000108.5(DLD):c.117G>A (p.Pro39=)	rs751621846	0.00001
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)	rs886061907	0.00001
NM_000108.5(DLD):c.375G>A (p.Glu125=)	rs559057715	0.00001
NM_000108.5(DLD):c.*1027T>G	rs372098056
NM_000108.5(DLD):c.*1088A>G	rs886061912
NM_000108.5(DLD):c.*1231A>G	rs2032385167
NM_000108.5(DLD):c.*167T>C	rs886061909
NM_000108.5(DLD):c.*374G>T	rs576270082
NM_000108.5(DLD):c.*470G>A	rs111619940
NM_000108.5(DLD):c.*498T>G	rs886061911
NM_000108.5(DLD):c.*898C>T	rs2032373871
NM_000108.5(DLD):c.-10C>T	rs1269120569
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)	rs2032312825
NM_000108.5(DLD):c.1465-7C>G	rs886061908
NM_000108.5(DLD):c.267+15del	rs886061906
NM_000108.5(DLD):c.30C>A (p.Ser10=)	rs779166996
NM_000108.5(DLD):c.520A>G (p.Ile174Val)	rs2031981415

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