ClinVar Miner

List of variants reported as pathogenic for 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

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Total variants: 34
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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.1016+1G>A rs771607178 0.00006
NM_005518.4(HMGCS2):c.1270C>T (p.Arg424Ter) rs137852637 0.00004
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs) rs1553241079 0.00004
NM_005518.4(HMGCS2):c.520T>C (p.Phe174Leu) rs137852636 0.00004
NM_005518.4(HMGCS2):c.1017-2A>G rs111313628 0.00001
NM_005518.4(HMGCS2):c.1162G>A (p.Gly388Arg) rs752626288 0.00001
NM_005518.4(HMGCS2):c.1480C>T (p.Arg494Ter) rs776399237 0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His) rs137852639 0.00001
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met) rs28937320 0.00001
NM_005518.4(HMGCS2):c.559+1G>A rs587603096 0.00001
NC_000001.10:g.(?_120311344)_(120311467_?)del
NC_000001.11:g.(?_119768721)_(119768864_?)del
NC_000001.11:g.(?_119768741)_(119768844_?)del
NM_005518.4(HMGCS2):c.1017-2del rs1553240165
NM_005518.4(HMGCS2):c.1030G>T (p.Glu344Ter) rs2101254797
NM_005518.4(HMGCS2):c.1090T>A (p.Phe364Ile) rs1652807016
NM_005518.4(HMGCS2):c.1229dup (p.Ser411fs)
NM_005518.4(HMGCS2):c.1354C>T (p.Arg452Ter)
NM_005518.4(HMGCS2):c.1394del (p.Asn465fs) rs779321975
NM_005518.4(HMGCS2):c.1502G>C (p.Arg501Pro) rs372079931
NM_005518.4(HMGCS2):c.39dup (p.Leu14fs) rs2101283660
NM_005518.4(HMGCS2):c.500A>G (p.Tyr167Cys) rs137852640
NM_005518.4(HMGCS2):c.634G>T (p.Gly212Ter)
NM_005518.4(HMGCS2):c.682C>T (p.Arg228Ter) rs763531478
NM_005518.4(HMGCS2):c.717T>G (p.Tyr239Ter) rs1652955748
NM_005518.4(HMGCS2):c.726C>G (p.Tyr242Ter) rs145838142
NM_005518.4(HMGCS2):c.72dup (p.Pro25fs) rs2101283564
NM_005518.4(HMGCS2):c.772del (p.Ser258fs) rs1553240525
NM_005518.4(HMGCS2):c.788del (p.Leu263fs) rs2101262353
NM_005518.4(HMGCS2):c.810C>G (p.Tyr270Ter) rs751009381
NM_005518.4(HMGCS2):c.850+2T>C rs1571037298
NM_005518.4(HMGCS2):c.851-2A>C rs1652885850
NM_005518.4(HMGCS2):c.862C>T (p.Arg288Ter) rs142637231

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