List of variants reported as uncertain significance for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_005518.4(HMGCS2):c.174C>T (p.Ala58=)	rs138739620	0.00153
NM_005518.3(HMGCS2):c.*862G>A	rs752746599	0.00043
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=)	rs201735169	0.00024
NM_005518.4(HMGCS2):c.851-14G>A	rs188523700	0.00016
NM_005518.4(HMGCS2):c.894G>A (p.Met298Ile)	rs138086607	0.00012
NM_005518.4(HMGCS2):c.26A>G (p.Lys9Arg)	rs144004292	0.00010
NM_005518.4(HMGCS2):c.275G>A (p.Arg92His)	rs144921290	0.00007
NM_005518.4(HMGCS2):c.1420+13T>C	rs771878586	0.00006
NM_005518.4(HMGCS2):c.364G>A (p.Asp122Asn)	rs368014391	0.00006
NM_005518.4(HMGCS2):c.803G>A (p.Arg268Gln)	rs371306326	0.00006
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter)	rs137852637	0.00004
NM_005518.4(HMGCS2):c.1325C>T (p.Thr442Ile)	rs765680777	0.00004
NM_005518.4(HMGCS2):c.595G>A (p.Val199Ile)	rs150140061	0.00004
NM_005518.4(HMGCS2):c.1513C>T (p.Arg505Trp)	rs780044819	0.00003
NM_005518.4(HMGCS2):c.791G>A (p.Arg264Gln)	rs372095379	0.00003
NM_005518.4(HMGCS2):c.*765G>A	rs587722758	0.00002
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=)	rs773364048	0.00002
NM_005518.4(HMGCS2):c.830T>A (p.Ile277Asn)	rs775637086	0.00002
NM_005518.4(HMGCS2):c.940C>T (p.Arg314Cys)	rs781567781	0.00002
NM_005518.4(HMGCS2):c.-36T>G	rs768747562	0.00001
NM_005518.4(HMGCS2):c.111T>C (p.Ser37=)	rs200675569	0.00001
NM_005518.4(HMGCS2):c.1132A>C (p.Asn378His)	rs746227549	0.00001
NM_005518.4(HMGCS2):c.559+15G>A	rs888099231	0.00001
NM_005518.4(HMGCS2):c.88C>G (p.Pro30Ala)	rs202069145	0.00001
NM_005518.4(HMGCS2):c.95C>T (p.Ala32Val)	rs199651321	0.00001
NM_005518.4(HMGCS2):c.*139C>A	rs965967252
NM_005518.4(HMGCS2):c.*155C>T	rs587686291
NM_005518.4(HMGCS2):c.6-11_6-8del	rs757178898
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=)	rs886045207
NM_005518.4(HMGCS2):c.704T>C (p.Met235Thr)	rs773806829

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