ClinVar Miner

List of variants reported as pathogenic for Deficiency of hydroxymethylglutaryl-CoA lyase by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292 0.00006
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731 0.00002
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln) rs199587895 0.00001
NC_000001.10:g.(?_24122439)_(24134833_?)del
NC_000001.10:g.(?_24122439)_(24144093_?)del
NC_000001.10:g.(?_24125085)_(24151905_?)del
NC_000001.10:g.(?_24127494)_(24130949_?)del
NC_000001.10:g.(?_24128943)_(24129064_?)del
NC_000001.10:g.(?_24128943)_(24131025_?)del
NC_000001.10:g.(?_24132578)_(24134831_?)del
NC_000001.10:g.(?_24137216)_(24151915_?)del
NC_000001.10:g.(?_24140670)_(24140838_?)del
NC_000001.10:g.(?_24140670)_(24194786_?)del
NC_000001.10:g.(?_24146980)_(24147103_?)del
NC_000001.10:g.(?_24146990)_(24151915_?)del
NC_000001.10:g.(?_24151826)_(24151905_?)del
NC_000001.11:g.(?_23825336)_(23825435_?)del
NM_000191.3(HMGCL):c.133C>T (p.Gln45Ter) rs2148425853
NM_000191.3(HMGCL):c.137dup (p.Asn46fs) rs1638698938
NM_000191.3(HMGCL):c.144G>T (p.Lys48Asn)
NM_000191.3(HMGCL):c.178_187del (p.Ile60fs)
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.208_209del (p.Val70fs) rs2148424175
NM_000191.3(HMGCL):c.242G>A (p.Trp81Ter) rs2148424154
NM_000191.3(HMGCL):c.250C>T (p.Gln84Ter)
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs) rs1274176298
NM_000191.3(HMGCL):c.319del (p.Thr107fs)
NM_000191.3(HMGCL):c.349_361del
NM_000191.3(HMGCL):c.374_375del (p.Val125fs) rs1638575413
NM_000191.3(HMGCL):c.392del (p.Ala130_Ser131insTer) rs1638575128
NM_000191.3(HMGCL):c.394_406dup (p.Lys136fs)
NM_000191.3(HMGCL):c.477del (p.Ala160fs)
NM_000191.3(HMGCL):c.484dup (p.Ile162fs)
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter) rs200189529
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.545del (p.Pro182fs) rs2148420687
NM_000191.3(HMGCL):c.610del (p.Asp204fs) rs2148419170
NM_000191.3(HMGCL):c.690_698del (p.Ala231_His233del)
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
NM_000191.3(HMGCL):c.724_725del (p.Leu242fs)
NM_000191.3(HMGCL):c.769del (p.Asp257fs) rs2148417048
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
NM_000191.3(HMGCL):c.874_876+31del
NM_000191.3(HMGCL):c.874dup (p.Thr292fs)
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431

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