ClinVar Miner

List of variants in gene HMGCS2 reported as likely pathogenic for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

Included ClinVar conditions (1):
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638 0.00026
NM_005518.4(HMGCS2):c.821G>A (p.Arg274His) rs370058829 0.00008
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs) rs1553241079 0.00004
NM_005518.4(HMGCS2):c.685+2T>A rs796051979 0.00002
NM_005518.4(HMGCS2):c.1187+1G>C rs764706394 0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His) rs137852639 0.00001
NM_005518.4(HMGCS2):c.1156dup (p.Leu386fs) rs1571033506
NM_005518.4(HMGCS2):c.1201G>T (p.Glu401Ter) rs1454719802
NM_005518.4(HMGCS2):c.1347_1351del (p.Ala450fs) rs2101248147
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro) rs372079931
NM_005518.4(HMGCS2):c.164G>A (p.Gly55Asp)
NM_005518.4(HMGCS2):c.220G>A (p.Glu74Lys) rs587688416
NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp)
NM_005518.4(HMGCS2):c.407A>G (p.Asp136Gly) rs2101273359
NM_005518.4(HMGCS2):c.422T>A (p.Val141Asp) rs1406920400
NM_005518.4(HMGCS2):c.512C>T (p.Ala171Val) rs1653132966
NM_005518.4(HMGCS2):c.719A>C (p.Asp240Ala) rs762211049
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter) rs145838142
NM_005518.4(HMGCS2):c.905C>T (p.Thr302Ile) rs1652875135

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