ClinVar Miner

List of variants reported as likely benign for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile) rs76773981 0.00207
NM_005518.4(HMGCS2):c.1017-18C>T rs373664352 0.00034
NM_005518.4(HMGCS2):c.570C>T (p.Ala190=) rs201735169 0.00024
NM_005518.4(HMGCS2):c.1311G>A (p.Lys437=) rs111284724 0.00016
NM_005518.4(HMGCS2):c.813A>G (p.Thr271=) rs765772883 0.00016
NM_005518.4(HMGCS2):c.175C>A (p.Leu59Met) rs181428774 0.00010
NM_005518.4(HMGCS2):c.1420+13T>C rs771878586 0.00006
NM_005518.4(HMGCS2):c.851-19T>C rs373541639 0.00005
NM_005518.4(HMGCS2):c.1161C>T (p.Tyr387=) rs756169207 0.00004
NM_005518.4(HMGCS2):c.501C>T (p.Tyr167=) rs758839673 0.00004
NM_005518.4(HMGCS2):c.1016+10C>T rs770388243 0.00003
NM_005518.4(HMGCS2):c.1236T>C (p.Tyr412=) rs773364048 0.00002
NM_005518.4(HMGCS2):c.744G>A (p.Ser248=) rs1219952938 0.00002
NM_005518.4(HMGCS2):c.891C>T (p.Tyr297=) rs1048438 0.00002
NM_005518.4(HMGCS2):c.1016+19G>T rs781641917 0.00001
NM_005518.4(HMGCS2):c.1187+7A>T rs769416687 0.00001
NM_005518.4(HMGCS2):c.1421-17T>C rs755145375 0.00001
NM_005518.4(HMGCS2):c.387A>G (p.Val129=) rs750709310 0.00001
NM_005518.4(HMGCS2):c.633C>T (p.Ala211=) rs370124069 0.00001
NM_005518.4(HMGCS2):c.714G>A (p.Val238=) rs1419921025 0.00001
NM_005518.4(HMGCS2):c.879C>T (p.Asp293=) rs761787433 0.00001
NM_005518.4(HMGCS2):c.1017-12G>A
NM_005518.4(HMGCS2):c.1017G>C (p.Gly339=) rs777182302
NM_005518.4(HMGCS2):c.1020G>A (p.Gly340=)
NM_005518.4(HMGCS2):c.1029G>A (p.Leu343=)
NM_005518.4(HMGCS2):c.105-8C>T
NM_005518.4(HMGCS2):c.1080T>G (p.Ser360=)
NM_005518.4(HMGCS2):c.1119C>T (p.Tyr373=)
NM_005518.4(HMGCS2):c.1188-17G>T
NM_005518.4(HMGCS2):c.1254A>G (p.Ala418=) rs2101249712
NM_005518.4(HMGCS2):c.126C>G (p.Val42=)
NM_005518.4(HMGCS2):c.126C>T (p.Val42=)
NM_005518.4(HMGCS2):c.1295-12T>C
NM_005518.4(HMGCS2):c.1333C>T (p.Leu445=) rs754122611
NM_005518.4(HMGCS2):c.1350C>T (p.Ala450=)
NM_005518.4(HMGCS2):c.135C>T (p.Ala45=)
NM_005518.4(HMGCS2):c.1368T>C (p.Ser456=)
NM_005518.4(HMGCS2):c.1421-9A>C
NM_005518.4(HMGCS2):c.1425T>C (p.Asn475=) rs751604096
NM_005518.4(HMGCS2):c.1521C>T (p.Pro507=)
NM_005518.4(HMGCS2):c.159C>T (p.Asp53=)
NM_005518.4(HMGCS2):c.195C>T (p.Ala65=) rs1571042762
NM_005518.4(HMGCS2):c.348C>T (p.Arg116=)
NM_005518.4(HMGCS2):c.369T>C (p.Ser123=) rs780926888
NM_005518.4(HMGCS2):c.393T>C (p.Thr131=)
NM_005518.4(HMGCS2):c.411G>A (p.Lys137=)
NM_005518.4(HMGCS2):c.51G>A (p.Ala17=)
NM_005518.4(HMGCS2):c.559+13A>T
NM_005518.4(HMGCS2):c.559+9G>A
NM_005518.4(HMGCS2):c.559+9G>T
NM_005518.4(HMGCS2):c.560-13T>C
NM_005518.4(HMGCS2):c.621C>T (p.Pro207=) rs886045207
NM_005518.4(HMGCS2):c.633C>A (p.Ala211=)
NM_005518.4(HMGCS2):c.675C>T (p.Ala225=) rs2101263677
NM_005518.4(HMGCS2):c.685+13C>G
NM_005518.4(HMGCS2):c.685+19C>T rs2101263634
NM_005518.4(HMGCS2):c.686-17T>C
NM_005518.4(HMGCS2):c.786C>T (p.Tyr262=)
NM_005518.4(HMGCS2):c.822T>C (p.Arg274=) rs1571037388
NM_005518.4(HMGCS2):c.850+17G>A
NM_005518.4(HMGCS2):c.990C>T (p.Ser330=) rs2101258162
NM_005518.4(HMGCS2):c.991T>C (p.Leu331=) rs776664576

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