List of variants reported as uncertain significance for Deficiency of hydroxymethylglutaryl-CoA lyase by Illumina Laboratory Services, Illumina

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.*104G>A	rs552915017	0.00185
NM_000191.3(HMGCL):c.*338G>C	rs988536831	0.00018
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)	rs200955062	0.00011
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)	rs377359610	0.00011
NM_000191.3(HMGCL):c.*414G>A	rs886046310	0.00006
NM_000191.3(HMGCL):c.594C>T (p.Tyr198=)	rs139799938	0.00006
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr)	rs146306707	0.00005
NM_000191.3(HMGCL):c.720A>G (p.Gln240=)	rs911190800	0.00005
NM_000191.3(HMGCL):c.349-3C>A	rs777476731	0.00003
NM_000191.2(HMGCL):c.-41G>C	rs886046315	0.00002
NM_000191.3(HMGCL):c.*366G>A	rs1470010250	0.00002
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)	rs761468576	0.00002
NM_000191.3(HMGCL):c.828G>A (p.Leu276=)	rs771024022	0.00002
NM_000191.3(HMGCL):c.*388G>A	rs145874467	0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=)	rs200189529	0.00001
NM_000191.3(HMGCL):c.787C>A (p.Leu263Ile)	rs1025294353	0.00001
NM_000191.3(HMGCL):c.*290T>C	rs886046311
NM_000191.3(HMGCL):c.173A>G (p.Lys58Arg)	rs1638633961
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)	rs886046314
NM_000191.3(HMGCL):c.497+3G>A	rs763178392
NM_000191.3(HMGCL):c.630C>T (p.Thr210=)	rs886046313
NM_000191.3(HMGCL):c.708C>T (p.Asp236=)	rs886046312
NM_000191.3(HMGCL):c.750+14T>A	rs778868742
NM_000191.3(HMGCL):c.933C>G (p.Asn311Lys)	rs1194563406

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