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

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
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.121C>T (p.Arg41Ter)	rs770225915	0.00001
NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter)	rs200189529	0.00001
NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)	rs1425615804	0.00001
NM_000191.3(HMGCL):c.121dup (p.Arg41fs)	rs1553133042
NM_000191.3(HMGCL):c.206_207del (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.413del (p.Asn138fs)	rs1553132520
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.804C>A (p.Tyr268Ter)	rs765198174

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