ClinVar Miner

List of variants reported as likely pathogenic for Deficiency of hydroxymethylglutaryl-CoA lyase

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230 0.00006
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile) rs1302190999 0.00003
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915 0.00001
NM_000191.3(HMGCL):c.144+1G>A rs1638698732 0.00001
NM_000191.3(HMGCL):c.497+4A>G rs568718845 0.00001
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter) rs200189529 0.00001
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg) rs757884073 0.00001
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter) rs1425615804 0.00001
NC_000001.10:g.(24144074_24146999)_(24147084_24151845)del
NC_000001.10:g.(?_24137216)_(24140838_?)del
NM_000191.3(HMGCL):c.109G>A (p.Glu37Lys)
NM_000191.3(HMGCL):c.121dup (p.Arg41fs) rs1553133042
NM_000191.3(HMGCL):c.124G>A (p.Asp42Asn)
NM_000191.3(HMGCL):c.125A>G (p.Asp42Gly)
NM_000191.3(HMGCL):c.144+2T>C rs1001955490
NM_000191.3(HMGCL):c.145-1G>C
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg)
NM_000191.3(HMGCL):c.230del (p.Val77fs) rs1638632303
NM_000191.3(HMGCL):c.252+1G>A rs775218067
NM_000191.3(HMGCL):c.252+1G>C
NM_000191.3(HMGCL):c.275T>A (p.Leu92Ter) rs1638620864
NM_000191.3(HMGCL):c.276_278delinsT (p.Leu92fs)
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.308del (p.Tyr103fs)
NM_000191.3(HMGCL):c.331A>T (p.Lys111Ter) rs1638619737
NM_000191.3(HMGCL):c.348+1G>A rs1322650779
NM_000191.3(HMGCL):c.348+1G>C
NM_000191.3(HMGCL):c.349_361del
NM_000191.3(HMGCL):c.413del (p.Asn138fs) rs1553132520
NM_000191.3(HMGCL):c.425C>T (p.Ser142Phe)
NM_000191.3(HMGCL):c.48_60+289del
NM_000191.3(HMGCL):c.497+1G>A
NM_000191.3(HMGCL):c.501C>A (p.Tyr167Ter) rs200189529
NM_000191.3(HMGCL):c.521G>A (p.Cys174Tyr)
NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter) rs112508527
NM_000191.3(HMGCL):c.561+1G>T
NM_000191.3(HMGCL):c.562-1G>A
NM_000191.3(HMGCL):c.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.594C>G (p.Tyr198Ter) rs139799938
NM_000191.3(HMGCL):c.60+1G>C
NM_000191.3(HMGCL):c.60+1G>T rs1324641233
NM_000191.3(HMGCL):c.60_60+18del
NM_000191.3(HMGCL):c.61-1G>C rs1638701269
NM_000191.3(HMGCL):c.610del (p.Asp204fs) rs2148419170
NM_000191.3(HMGCL):c.610dup (p.Asp204fs)
NM_000191.3(HMGCL):c.704_705dup (p.Asp236fs)
NM_000191.3(HMGCL):c.714T>G (p.Tyr238Ter) rs1638446662
NM_000191.3(HMGCL):c.718C>T (p.Gln240Ter) rs1638446514
NM_000191.3(HMGCL):c.71C>G (p.Ser24Ter)
NM_000191.3(HMGCL):c.750+2T>C
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter) rs765198174
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys) rs1287973337
NM_000191.3(HMGCL):c.866del (p.Gly289fs)
NM_000191.3(HMGCL):c.914_915del (p.Phe305fs) rs786205431

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