ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter) rs770225915
NM_000191.3(HMGCL):c.121dup (p.Arg41fs) rs1553133042
NM_000191.3(HMGCL):c.202_203CT[2] (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter) rs890995574
NM_000191.3(HMGCL):c.286del (p.Gln96fs) rs1184002840
NM_000191.3(HMGCL):c.3G>T (p.Met1Ile) rs1302190999
NM_000191.3(HMGCL):c.413del (p.Asn138fs) rs1553132520
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter) rs200189529
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.562-2A>G rs1553131955
NM_000191.3(HMGCL):c.60+1G>T rs1324641233
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter) rs765198174
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter) rs1425615804

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